SLC26A2 c.835C>T ;(p.R279W)

Variant ID: 5-149359991-C-T

NM_000112.3(SLC26A2):c.835C>T;(p.R279W)

This variant was identified in 45 publications

View GRCh38 version.




Publications:


Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children.

International Journal Of Surgery Case Reports
Kizilkaya, Volkan V; Engin, Sami S; Tunc, Ali A; Tonbul, Alparslan A
Publication Date: 2023-04-12

Variant appearance in text: DTDST: R279W
PubMed Link: 37062195
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Frontiers In Genetics
Tran Mau-Them, Frédéric F; Delanne, Julian J; Denommé-Pichon, Anne-Sophie AS; Safraou, Hana H; Bruel, Ange-Line AL; Vitobello, Antonio A; Garde, Aurore A; Nambot, Sophie S; Bourgon, Nicolas N; Racine, Caroline C; Sorlin, Arthur A; Moutton, Sébastien S; Marle, Nathalie N; Rousseau, Thierry T; Sagot, Paul P; Simon, Emmanuel E; Vincent-Delorme, Catherine C; Boute, Odile O; Colson, Cindy C; Petit, Florence F; Legendre, Marine M; Naudion, Sophie S; Rooryck, Caroline C; Prouteau, Clément C; Colin, Estelle E; Guichet, Agnès A; Ziegler, Alban A; Bonneau, Dominique D; Morel, Godelieve G; Fradin, Mélanie M; Lavillaureix, Alinoé A; Quelin, Chloé C; Pasquier, Laurent L; Odent, Sylvie S; Vera, Gabriella G; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Brehin, Anne-Claire AC; Putoux, Audrey A; Attia, Jocelyne J; Abel, Carine C; Blanchet, Patricia P; Wells, Constance F CF; Deiller, Caroline C; Nizon, Mathilde M; Mercier, Sandra S; Vincent, Marie M; Isidor, Bertrand B; Amiel, Jeanne J; Dard, Rodolphe R; Godin, Manon M; Gruchy, Nicolas N; Jeanne, Médéric M; Schaeffer, Elise E; Maillard, Pierre-Yves PY; Payet, Frédérique F; Jacquemont, Marie-Line ML; Francannet, Christine C; Sigaudy, Sabine S; Bergot, Marine M; Tisserant, Emilie E; Ascencio, Marie-Laure ML; Binquet, Christine C; Duffourd, Yannis Y; Philippe, Christophe C; Faivre, Laurence L; Thauvin-Robinet, Christel C
Publication Date: 2023

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 37035737
Variant Present in the following documents:
  • Main text
  • fgene-14-1099995.pdf
View BVdb publication page



Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics
Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U
Publication Date: 2023-04-03

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 37010288
Variant Present in the following documents:
  • supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: SLC26A2: R279W; rs104893915
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Iscience
Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E
Publication Date: 2023-02-17

Variant appearance in text: SLC26A2: R279W; rs104893915
PubMed Link: 36818284
Variant Present in the following documents:
  • mmc2.xlsx, sheet 6
View BVdb publication page



Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: SLC26A2: R279W
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
View BVdb publication page



Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.

Genes
Rosina, Erica E; Pezzani, Lidia L; Pezzoli, Laura L; Marchetti, Daniela D; Bellini, Matteo M; Pilotta, Alba A; Calabrese, Olga O; Nicastro, Emanuele E; Cirillo, Francesco F; Cereda, Anna A; Scatigno, Agnese A; Milani, Donatella D; Iascone, Maria M
Publication Date: 2022-07-19

Variant appearance in text: SLC26A2: 835C>T
PubMed Link: 35886058
Variant Present in the following documents:
  • Main text
  • genes-13-01275.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: SLC26A2: R279W; rs104893915
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome Medicine
De La Vega, Francisco M FM; Chowdhury, Shimul S; Moore, Barry B; Frise, Erwin E; McCarthy, Jeanette J; Hernandez, Edgar Javier EJ; Wong, Terence T; James, Kiely K; Guidugli, Lucia L; Agrawal, Pankaj B PB; Genetti, Casie A CA; Brownstein, Catherine A CA; Beggs, Alan H AH; Löscher, Britt-Sabina BS; Franke, Andre A; Boone, Braden B; Levy, Shawn E SE; Õunap, Katrin K; Pajusalu, Sander S; Huentelman, Matt M; Ramsey, Keri K; Naymik, Marcus M; Narayanan, Vinodh V; Veeraraghavan, Narayanan N; Billings, Paul P; Reese, Martin G MG; Yandell, Mark M; Kingsmore, Stephen F SF
Publication Date: 2021-10-14

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 34645491
Variant Present in the following documents:
  • 13073_2021_965_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: SLC26A2: R279W
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
  • 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Genes
Härkönen, Helmi H; Loid, Petra P; Mäkitie, Outi O
Publication Date: 2021-05-11

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 34064542
Variant Present in the following documents:
  • Main text
  • genes-12-00714.pdf
View BVdb publication page



Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.

Molecular Syndromology
Varadarajan, Saranya S; Balaji, Thodur Madapusi TM; Raj, A Thirumal AT; Gupta, Archana A AA; Patil, Shankargouda S; Alhazmi, Tariq Hassan TH; Alaqi, Halah Athman Ali HAA; Al Omar, Neda Essa M NEM; Almutaher, Somayh Abu Baker A SABA; Jafer, Alhassen Abdurabu AA; Hedad, Ismaeel Abker IA
Publication Date: 2021-04

Variant appearance in text: SLC26A2: R279W
PubMed Link: 34012376
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sallevelt, Suzanne C E H SCEH; Stegmann, Alexander P A APA; de Koning, Bart B; Velter, Crool C; Steyls, Anja A; van Esch, Melanie M; Lakeman, Phillis P; Yntema, Helger H; Esteki, Masoud Zamani MZ; de Die-Smulders, Christine E M CEM; Gilissen, Christian C; van den Wijngaard, Arthur A; Brunner, Han G HG; Paulussen, Aimée D C ADC
Publication Date: 2021-06

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 33742171
Variant Present in the following documents:
  • Main text
  • 41436_2021_1116_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Study on pathogenic genes of dwarfism disease by next-generation sequencing.

World Journal Of Clinical Cases
Yang, Lv-Lv LL; Liang, Shi-Shan SS
Publication Date: 2021-03-06

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 33728303
Variant Present in the following documents:
  • Main text
  • WJCC-9-1600.pdf
View BVdb publication page



Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 33726816
Variant Present in the following documents:
  • 13073_2021_855_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: SLC26A2: R279W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp; rs104893915
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

Prenatal Diagnosis
Deden, Chantal C; Neveling, Kornelia K; Zafeiropopoulou, Dimitra D; Gilissen, Christian C; Pfundt, Rolph R; Rinne, Tuula T; de Leeuw, Nicole N; Faas, Brigitte B; Gardeitchik, Thatjana T; Sallevelt, Suzanne C E H SCEH; Paulussen, Aimee A; Stevens, Servi J C SJC; Sikkel, Esther E; Elting, Mariet W MW; van Maarle, Merel C MC; Diderich, Karin E M KEM; Corsten-Janssen, Nicole N; Lichtenbelt, Klaske D KD; Lachmeijer, Guus G; Vissers, Lisenka E L M LELM; Yntema, Helger G HG; Nelen, Marcel M; Feenstra, Ilse I; van Zelst-Stams, Wendy A G WAG
Publication Date: 2020-07

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 32333414
Variant Present in the following documents:
  • Main text
  • PD-40-972.pdf
  • PD-40-972-s001.xlsx, sheet 1
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports
Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z
Publication Date: 2020-01-15

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 31942019
Variant Present in the following documents:
  • 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp; rs104893915
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Frontiers In Genetics
Park, Geun-Young GY; Jang, Dae-Hyun DH; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Joo, Joungsu J
Publication Date: 2019

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 31737055
Variant Present in the following documents:
  • Main text
  • fgene-10-01085.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp; rs104893915
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd
Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG
Publication Date: 2019-07

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 31028937
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



The etiology of idiopathic congenital talipes equinovarus: a systematic review.

Journal Of Orthopaedic Surgery And Research
Pavone, Vito V; Chisari, Emanuele E; Vescio, Andrea A; Lucenti, Ludovico L; Sessa, Giuseppe G; Testa, Gianluca G
Publication Date: 2018-08-22

Variant appearance in text: DTDST: R279W
PubMed Link: 30134936
Variant Present in the following documents:
  • Main text
  • 13018_2018_Article_913.pdf
View BVdb publication page



Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

Bmc Medical Genetics
Zhou, Taifeng T; Wang, Yongqian Y; Zhou, Hang H; Liao, Zhiheng Z; Gao, Bo B; Su, Deying D; Zheng, Shuhui S; Xu, Caixia C; Su, Peiqiang P
Publication Date: 2018-05-03

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 29724173
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_596.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SLC26A2: 835C>T; Arg279Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs104893915
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC26A2: R279W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cai, Tao T; Yang, Liu L; Cai, Wanshi W; Guo, Sen S; Yu, Ping P; Li, Jinchen J; Hu, Xueyu X; Yan, Ming M; Shao, Qianzhi Q; Jin, Yan Y; Sun, Zhong Sheng ZS; Luo, Zhuo-Jing ZJ
Publication Date: 2015-06-30

Variant appearance in text: SLC26A2: R279W
PubMed Link: 26077908
Variant Present in the following documents:
  • Main text
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Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.

Bmc Bioinformatics
Ravikumar, Komandur Elayavilli KE; Wagholikar, Kavishwar B KB; Li, Dingcheng D; Kocher, Jean-Pierre JP; Liu, Hongfang H
Publication Date: 2015-06-06

Variant appearance in text: DTDST: R279W
PubMed Link: 26047637
Variant Present in the following documents:
  • Main text
  • 12859_2015_Article_609.pdf
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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: SLC26A2: R279W
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
  • NIHMS551112-supplement-9.xlsx, sheet 1
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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Human Mutation
Jackson, Gail C GC; Mittaz-Crettol, Laureane L; Taylor, Jacqueline A JA; Mortier, Geert R GR; Spranger, Juergen J; Zabel, Bernhard B; Le Merrer, Martine M; Cormier-Daire, Valerie V; Hall, Christine M CM; Offiah, Amaka A; Wright, Michael J MJ; Savarirayan, Ravi R; Nishimura, Gen G; Ramsden, Simon C SC; Elles, Rob R; Bonafe, Luisa L; Superti-Furga, Andrea A; Unger, Sheila S; Zankl, Andreas A; Briggs, Michael D MD
Publication Date: 2012-01

Variant appearance in text: SLC26A2: Arg279Trp
PubMed Link: 21922596
Variant Present in the following documents:
  • Main text
  • humu0033-0144.pdf
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Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Journal Of Korean Medical Science
Cho, Tae-Joon TJ; Kim, Ok-Hwa OH; Lee, Hye-Ran HR; Shin, Sung Jin SJ; Yoo, Won Joon WJ; Park, Woong Yang WY; Park, Sung Sup SS; Cho, Sung Im SI; Choi, In Ho IH
Publication Date: 2010-07

Variant appearance in text: DTDST: R279W
PubMed Link: 20592910
Variant Present in the following documents:
  • Main text
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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Bmc Musculoskeletal Disorders
Hinrichs, Timo T; Superti-Furga, Andrea A; Scheiderer, Wolf-Dieter WD; Bonafé, Luisa L; Brenner, Rolf E RE; Mattes, Thomas T
Publication Date: 2010-06-03

Variant appearance in text: DTDST: R279W
PubMed Link: 20525296
Variant Present in the following documents:
  • Main text
  • 1471-2474-11-110.pdf
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Regulated transport of sulfate and oxalate by SLC26A2/DTDST.

American Journal Of Physiology. Cell Physiology
Heneghan, John F JF; Akhavein, Arash A; Salas, Maria J MJ; Shmukler, Boris E BE; Karniski, Lawrence P LP; Vandorpe, David H DH; Alper, Seth L SL
Publication Date: 2010-06

Variant appearance in text: SLC26A2: R279W
PubMed Link: 20219950
Variant Present in the following documents:
  • Main text
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Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus.

Bmc Medical Genetics
Liu, Guoqing G; Inglis, Julie J; Cardy, Amanda A; Shaw, Duncan D; Sahota, Sukhy S; Hennekam, Raoul R; Sharp, Linda L; Miedzybrodzka, Zosia Z
Publication Date: 2008-06-06

Variant appearance in text: DTDST: R279W
PubMed Link: 18538017
Variant Present in the following documents:
  • 1471-2350-9-50.pdf
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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

American Journal Of Human Genetics
Czarny-Ratajczak, M M; Lohiniva, J J; Rogala, P P; Kozlowski, K K; Perälä, M M; Carter, L L; Spector, T D TD; Kolodziej, L L; Seppänen, U U; Glazar, R R; Królewski, J J; Latos-Bielenska, A A; Ala-Kokko, L L
Publication Date: 2001-11

Variant appearance in text: DTDST: R279W
PubMed Link: 11565064
Variant Present in the following documents:
  • Main text
View BVdb publication page