Publications:

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Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases.

Nature Reviews. Molecular Cell Biology

Sakuragi, Takaharu T; Nagata, Shigekazu S

Publication Date: 2023-04-27

Variant appearance in text: TMEM16E: G231V

PubMed Link: 37106071

Variant Present in the following documents:

• 41580_2023_604_MOESM1_ESM.pdf

View BVdb publication page

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Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.

Journal Of Clinical Medicine

Bermejo-Guerrero, Laura L; de Fuenmayor-Fernández de la Hoz, Carlos Pablo CP; Guerrero-Molina, María Paz MP; Martín-Jiménez, Paloma P; Blázquez, Alberto A; Serrano-Lorenzo, Pablo P; Lora, David D; Morales-Conejo, Montserrat M; González-Martínez, Irene I; López-Jiménez, Elena Ana EA; Martín, Miguel A MA; Domínguez-González, Cristina C

Publication Date: 2023-03-22

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 36983435

Variant Present in the following documents:

• jcm-12-02435.pdf

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.

Genes

Soontrapa, Pannathat P; Liewluck, Teerin T

Publication Date: 2022-09-27

Variant appearance in text: ANO5: 692G>T

PubMed Link: 36292621

Variant Present in the following documents:

• Main text
• genes-13-01736.pdf

View BVdb publication page

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ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.

Genes & Diseases

Christiansen, Jon J; Güttsches, Anne-Katrin AK; Schara-Schmidt, Ulrike U; Vorgerd, Matthias M; Heute, Christoph C; Preusse, Corinna C; Stenzel, Werner W; Roos, Andreas A

Publication Date: 2022-11

Variant appearance in text: ANO5: 692G>T

PubMed Link: 36157496

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Annals Of Clinical And Translational Neurology

Bruels, Christine C CC; Littel, Hannah R HR; Daugherty, Audrey L AL; Stafki, Seth S; Estrella, Elicia A EA; McGaughy, Emily S ES; Truong, Don D; Badalamenti, Jonathan P JP; Pais, Lynn L; Ganesh, Vijay S VS; O'Donnell-Luria, Anne A; Stalker, Heather J HJ; Wang, Yang Y; Collins, Christin C; Behlmann, Andrea A; Lemmers, Richard J L F RJLF; van der Maarel, Silvère M SM; Laine, Regina R; Ghosh, Partha S PS; Darras, Basil T BT; Zingariello, Carla D CD; Pacak, Christina A CA; Kunkel, Louis M LM; Kang, Peter B PB

Publication Date: 2022-08

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 35734998

Variant Present in the following documents:

• Main text
• ACN3-9-1302.pdf

View BVdb publication page

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Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

European Journal Of Neurology

Krenn, Martin M; Tomschik, Matthias M; Wagner, Matias M; Zulehner, Gudrun G; Weng, Rosa R; Rath, Jakob J; Klotz, Sigrid S; Gelpi, Ellen E; Bsteh, Gabriel G; Keritam, Omar O; Colonna, Isabella I; Paternostro, Chiara C; Jäger, Fiona F; Lindeck-Pozza, Elisabeth E; Iglseder, Stephan S; Grinzinger, Susanne S; Schönfelder, Martina M; Hohenwarter, Christina C; Freimüller, Manfred M; Embacher, Norbert N; Wanschitz, Julia J; Topakian, Raffi R; Töpf, Ana A; Straub, Volker V; Quasthoff, Stefan S; Zimprich, Fritz F; Löscher, Wolfgang N WN; Cetin, Hakan H

Publication Date: 2022-06

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 35239206

Variant Present in the following documents:

• ENE-29-1815-s001.xlsx, sheet 1

View BVdb publication page

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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: ANO5: G231V; rs137854523

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.

The Journal Of Biological Chemistry

Tamura, Norito N; Sakai, Shota S; Martorell, Loreto L; Colomé, Roser R; Mizuike, Aya A; Goto, Asako A; Ortigoza-Escobar, Juan Darío JD; Hanada, Kentaro K

Publication Date: 2021-11

Variant appearance in text: ANO5: 692G>T; Gly231Val; rs137854523

PubMed Link: 34688657

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Cells

Bazrafshan, Sholeh S; Kushlaf, Hani H; Kakroo, Mashhood M; Quinlan, John J; Becker, Richard C RC; Sadayappan, Sakthivel S

Publication Date: 2021-02-08

Variant appearance in text: ANO5: 692G>T

PubMed Link: 33567613

Variant Present in the following documents:

• Main text
• cells-10-00349.pdf

View BVdb publication page

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: ANO5: 692G>T; G231V

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes

Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P

Publication Date: 2020-05-11

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 32403337

Variant Present in the following documents:

• genes-11-00539-s001.pdf

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Orphanet Journal Of Rare Diseases

Bevilacqua, Jorge A JA; Guecaimburu Ehuletche, Maria Del Rosario MDR; Perna, Abayuba A; Dubrovsky, Alberto A; Franca, Marcondes C MC; Vargas, Steven S; Hegde, Madhuri M; Claeys, Kristl G KG; Straub, Volker V; Daba, Nadia N; Faria, Roberta R; Periquet, Magali M; Sparks, Susan S; Thibault, Nathan N; Araujo, Roberto R

Publication Date: 2020-01-13

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 31931849

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1291.pdf

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val; rs137854523

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Clinical and molecular findings in a cohort of ANO5-related myopathy.

Annals Of Clinical And Translational Neurology

Silva, André M S AMS; Coimbra-Neto, Antônio R AR; Souza, Paulo Victor S PVS; Winckler, Pablo B PB; Gonçalves, Marcus V M MVM; Cavalcanti, Eduardo B U EBU; Carvalho, Alzira A D S AADS; Sobreira, Cláudia F D R CFDR; Camelo, Clara G CG; Mendonça, Rodrigo D H RDH; Estephan, Eduardo D P EDP; Reed, Umbertina C UC; Machado-Costa, Marcela C MC; Dourado-Junior, Mario E T MET; Pereira, Vanessa C VC; Cruzeiro, Marcelo M MM; Helito, Paulo V P PVP; Aivazoglou, Laís U LU; Camargo, Leonardo V D LVD; Gomes, Hudson H HH; Camargo, Amaro J S D AJSD; Pinto, Wladimir B V D R WBVDR; Badia, Bruno M L BML; Libardi, Luiz H LH; Yanagiura, Mario T MT; Oliveira, Acary S B ASB; Nucci, Anamarli A; Saute, Jonas A M JAM; França-Junior, Marcondes C MC; Zanoteli, Edmar E

Publication Date: 2019-07

Variant appearance in text: ANO5: Gly231Val

PubMed Link: 31353849

Variant Present in the following documents:

• Main text
• ACN3-6-1225.pdf

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: ANO5: G231V; rs137854523

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: ANO5: G231V; rs137854523

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing risk for Mendelian disorders in a Bronx population.

Molecular Genetics & Genomic Medicine

diSibio, Guy G; Upadhyay, Kinnari K; Meyer, Philip P; Oddoux, Carole C; Ostrer, Harry H

Publication Date: 2017-09

Variant appearance in text: ANO5: 692G>T; Gly231Val; rs137854523

PubMed Link: 28944235

Variant Present in the following documents:

• MGG3-5-516-s001.xlsx, sheet 1
• MGG3-5-516.pdf

View BVdb publication page

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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: ANO5: 692G>T; Gly231Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: ANO5: 692G>T; Gly231Val

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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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: ANO5: 692G>T; G231V; rs137854523

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: ANO5: G231V; rs137854523

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscular Disorders : Nmd

Savarese, Marco M; Di Fruscio, Giuseppina G; Tasca, Giorgio G; Ruggiero, Lucia L; Janssens, Sandra S; De Bleecker, Jan J; Delpech, Marc M; Musumeci, Olimpia O; Toscano, Antonio A; Angelini, Corrado C; Sacconi, Sabrina S; Santoro, Lucio L; Ricci, Enzo E; Claes, Kathleen K; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2015-07

Variant appearance in text: ANO5: 692G>T; G231V; rs137854523

PubMed Link: 25891276

Variant Present in the following documents:

• Main text
• mmc3.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs137854523

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

European Journal Of Human Genetics : Ejhg

Marconi, Caterina C; Brunamonti Binello, Paolo P; Badiali, Giovanni G; Caci, Emanuela E; Cusano, Roberto R; Garibaldi, Joseph J; Pippucci, Tommaso T; Merlini, Alberto A; Marchetti, Claudio C; Rhoden, Kerry J KJ; Galietta, Luis J V LJ; Lalatta, Faustina F; Balbi, Paolo P; Seri, Marco M

Publication Date: 2013-06

Variant appearance in text: ANO5: 692G>T

PubMed Link: 23047743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

American Journal Of Human Genetics

Bolduc, Véronique V; Marlow, Gareth G; Boycott, Kym M KM; Saleki, Khalil K; Inoue, Hiroshi H; Kroon, Johan J; Itakura, Mitsuo M; Robitaille, Yves Y; Parent, Lucie L; Baas, Frank F; Mizuta, Kuniko K; Kamata, Nobuyuki N; Richard, Isabelle I; Linssen, Wim H J P WH; Mahjneh, Ibrahim I; de Visser, Marianne M; Bashir, Rumaisa R; Brais, Bernard B

Publication Date: 2010-02-12

Variant appearance in text: LGMD2L: 692G>T

PubMed Link: 20096397

Variant Present in the following documents:

• Main text

View BVdb publication page

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