SLC26A4 c.349C>T ;(p.L117F)

Variant ID: 7-107312627-C-T

NM_000441.1(SLC26A4):c.349C>T;(p.L117F)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Nature Communications
Liu, Qianying Q; Zhang, Xiang X; Huang, Hui H; Chen, Yuxin Y; Wang, Fang F; Hao, Aihua A; Zhan, Wuqiang W; Mao, Qiyu Q; Hu, Yuxia Y; Han, Lin L; Sun, Yifang Y; Zhang, Meng M; Liu, Zhimin Z; Li, Geng-Lin GL; Zhang, Weijia W; Shu, Yilai Y; Sun, Lei L; Chen, Zhenguo Z
Publication Date: 2023-05-25

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 37230976
Variant Present in the following documents:
  • 41467_2023_38303_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

International Journal Of Molecular Sciences
Pál, Margit M; Nagy, Dóra D; Neller, Alexandra A; Farkas, Katalin K; Leprán-Török, Dóra D; Nagy, Nikoletta N; Füstös, Dalma D; Nagy, Roland R; Németh, Adrienne A; Szilvássy, Judit J; Rovó, László L; Kiss, József Géza JG; Széll, Márta M
Publication Date: 2023-04-17

Variant appearance in text: SLC26A4: 349C>T
PubMed Link: 37108562
Variant Present in the following documents:
  • Main text
  • ijms-24-07401.pdf
View BVdb publication page



Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.

Frontiers In Genetics
Quaio, Caio Robledo D' Angioli Costa CRAC; Coelho, Antonio Victor Campos AVC; Moura, Livia Maria Silva LMS; Guedes, Rafael Lucas Muniz RLM; Chen, Kelin K; Ceroni, Jose Ricardo Magliocco JRM; Minillo, Renata Moldenhauer RM; Caraciolo, Marcel Pinheiro MP; Reis, Rodrigo de Souza RS; de Azevedo, Bruna Mascaro Cordeiro BMC; Nobrega, Maria Soares MS; Teixeira, Anne Caroline Barbosa ACB; Martinelli Lima, Matheus M; da Mota, Thamara Rayssa TR; da Matta, Marina Cadena MC; Colichio, Gabriela Borges Cherulli GBC; Roncalho, Aline Lulho AL; Ferreira, Ana Flavia Martinho AFM; Campilongo, Gabriela Pereira GP; Perrone, Eduardo E; Virmond, Luiza do Amaral LDA; Moreno, Carolina Araujo CA; Prota, Joana Rosa Marques JRM; de França, Marina M; Cervato, Murilo Castro MC; de Almeida, Tatiana Ferreira TF; de Oliveira Filho, Joao Bosco JB
Publication Date: 2022

Variant appearance in text: DFNB4: 349C>T; rs145254330
PubMed Link: 36147510
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 5
View BVdb publication page



Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Scientific Reports
Kim, So Young SY; Kim, Bong Jik BJ; Oh, Doo Yi DY; Han, Jin Hee JH; Yi, Nayoung N; Kim, Namju Justin NJ; Park, Moo Kyun MK; Keum, Changwon C; Seo, Go Hun GH; Choi, Byung Yoon BY
Publication Date: 2022-07-21

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 35864128
Variant Present in the following documents:
  • 41598_2022_16661_MOESM3_ESM.xlsx, sheet 1
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: SLC26A4: L117F; rs145254330
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



Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Human Genetics
Smits, Jeroen J JJ; de Bruijn, Suzanne E SE; Lanting, Cornelis P CP; Oostrik, Jaap J; O'Gorman, Luke L; Mantere, Tuomo T; , ; Cremers, Frans P M FPM; Roosing, Susanne S; Yntema, Helger G HG; de Vrieze, Erik E; Derks, Ronny R; Hoischen, Alexander A; Pegge, Sjoert A H SAH; Neveling, Kornelia K; Pennings, Ronald J E RJE; Kremer, Hannie H
Publication Date: 2022-04

Variant appearance in text: SLC26A4: Leu117Phe
PubMed Link: 34410491
Variant Present in the following documents:
  • Main text
  • 439_2021_Article_2336.pdf
View BVdb publication page



Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,
Publication Date: 2021-11

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 34230634
Variant Present in the following documents:
  • NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Patel, Mayher J MJ; DiStefano, Marina T MT; Oza, Andrea M AM; Hughes, Madeline Y MY; Wilcox, Emma H EH; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Nara, Kiyomitsu K; Kenna, Margaret M; Azaiez, Hela H; Booth, Kevin T KT; Avraham, Karen B KB; Kremer, Hannie H; Griffith, Andrew J AJ; Rehm, Heidi L HL; Amr, Sami S SS; Tayoun, Ahmad N Abou ANA; ,
Publication Date: 2021-11

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 34230634
Variant Present in the following documents:
  • NIHMS1734674-supplement-Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Clinical Genetics
Brownstein, Zippora Z; Gulsuner, Suleyman S; Walsh, Tom T; Martins, Fábio T A FTA; Taiber, Shahar S; Isakov, Ofer O; Lee, Ming K MK; Bordeynik-Cohen, Mor M; Birkan, Maria M; Chang, Weise W; Casadei, Silvia S; Danial-Farran, Nada N; Abu-Rayyan, Amal A; Carlson, Ryan R; Kamal, Lara L; Arnthórsson, Asgeir Ö AÖ; Sokolov, Meirav M; Gilony, Dror D; Lipschitz, Noga N; Frydman, Moshe M; Davidov, Bella B; Macarov, Michal M; Sagi, Michal M; Vinkler, Chana C; Poran, Hana H; Sharony, Reuven R; Samra, Nadra N; Zvi, Na'ama N; Baris-Feldman, Hagit H; Singer, Amihood A; Handzel, Ophir O; Hertzano, Ronna R; Ali-Naffaa, Doaa D; Ruhrman-Shahar, Noa N; Madgar, Ory O; Sofrin-Drucker, Efrat E; Peleg, Amir A; Khayat, Morad M; Shohat, Mordechai M; Basel-Salmon, Lina L; Pras, Elon E; Lev, Dorit D; Wolf, Michael M; Steingrimsson, Eirikur E; Shomron, Noam N; Kelley, Matthew W MW; Kanaan, Moien N MN; Allon-Shalev, Stavit S; King, Mary-Claire MC; Avraham, Karen B KB
Publication Date: 2020-10

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 33111345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: SLC26A4: 349C>T; L117F
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Nature Communications
Li, Mengnan M; Nishio, Shin-Ya SY; Naruse, Chie C; Riddell, Meghan M; Sapski, Sabrina S; Katsuno, Tatsuya T; Hikita, Takao T; Mizapourshafiyi, Fatemeh F; Smith, Fiona M FM; Cooper, Leanne T LT; Lee, Min Goo MG; Asano, Masahide M; Boettger, Thomas T; Krueger, Marcus M; Wietelmann, Astrid A; Graumann, Johannes J; Day, Bryan W BW; Boyd, Andrew W AW; Offermanns, Stefan S; Kitajiri, Shin-Ichiro SI; Usami, Shin-Ichi SI; Nakayama, Masanori M
Publication Date: 2020-03-12

Variant appearance in text: SLC26A4: L117F
PubMed Link: 32165640
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15198.pdf
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: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 31942019
Variant Present in the following documents:
  • 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: SLC26A4: 349C>T
PubMed Link: 31783775
Variant Present in the following documents:
  • Main text
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 5
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 4
  • 13073_2019_Article_683.pdf
View BVdb publication page



Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Human Mutation
Wasano, Koichiro K; Takahashi, Satoe S; Rosenberg, Samuel K SK; Kojima, Takashi T; Mutai, Hideki H; Matsunaga, Tatsuo T; Ogawa, Kaoru K; Homma, Kazuaki K
Publication Date: 2020-01

Variant appearance in text: SLC26A4: 349C>T
PubMed Link: 31599023
Variant Present in the following documents:
  • Main text
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: SLC26A4: 349C>T; Leu117Phe; rs145254330
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

European Journal Of Human Genetics : Ejhg
Chakchouk, Imen I; Zhang, Di D; Zhang, Zhihui Z; Francioli, Laurent C LC; Santos-Cortez, Regie Lyn P RLP; Schrauwen, Isabelle I; Leal, Suzanne M SM
Publication Date: 2019-09

Variant appearance in text: SLC26A4: L117F
PubMed Link: 31053783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: SLC26A4: L117F; rs145254330
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Human Mutation
Oza, Andrea M AM; DiStefano, Marina T MT; Hemphill, Sarah E SE; Cushman, Brandon J BJ; Grant, Andrew R AR; Siegert, Rebecca K RK; Shen, Jun J; Chapin, Alex A; Boczek, Nicole J NJ; Schimmenti, Lisa A LA; Murry, Jaclyn B JB; Hasadsri, Linda L; Nara, Kiyomitsu K; Kenna, Margaret M; Booth, Kevin T KT; Azaiez, Hela H; Griffith, Andrew A; Avraham, Karen B KB; Kremer, Hannie H; Rehm, Heidi L HL; Amr, Sami S SS; Abou Tayoun, Ahmad N AN; ,
Publication Date: 2018-11

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 30311386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

American Journal Of Human Genetics
Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH
Publication Date: 2018-10-04

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 30245029
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SLC26A4: 349C>T; L117F; rs145254330
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: SLC26A4: L117F
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: SLC26A4: L117F
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Human Genetics
Sloan-Heggen, Christina M CM; Bierer, Amanda O AO; Shearer, A Eliot AE; Kolbe, Diana L DL; Nishimura, Carla J CJ; Frees, Kathy L KL; Ephraim, Sean S SS; Shibata, Seiji B SB; Booth, Kevin T KT; Campbell, Colleen A CA; Ranum, Paul T PT; Weaver, Amy E AE; Black-Ziegelbein, E Ann EA; Wang, Donghong D; Azaiez, Hela H; Smith, Richard J H RJH
Publication Date: 2016-04

Variant appearance in text: SLC26A4: 349C>T; Leu117Phe
PubMed Link: 26969326
Variant Present in the following documents:
  • 439_2016_1648_MOESM1_ESM.pdf
View BVdb publication page



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: DFNB4: L117F; rs145254330
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: SLC26A4: L117F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Plos One
Rodriguez-Paris, Juan J; Pique, Lynn L; Colen, Tahl T; Roberson, Joseph J; Gardner, Phyllis P; Schrijver, Iris I
Publication Date: 2010-07-26

Variant appearance in text: SLC26A4: L117F
PubMed Link: 20668687
Variant Present in the following documents:
View BVdb publication page