Publications:

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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: GJB1: 187G>A; Val63Ile

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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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: GJB1: 187G>A; Val63Ile

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: V63I

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: V63I

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology

Panosyan, Francis B FB; Laura, Matilde M; Rossor, Alexander M AM; Pisciotta, Chiara C; Piscosquito, Giuseppe G; Burns, Joshua J; Li, Jun J; Yum, Sabrina W SW; Lewis, Richard A RA; Day, John J; Horvath, Rita R; Herrmann, David N DN; Shy, Michael E ME; Pareyson, Davide D; Reilly, Mary M MM; Scherer, Steven S SS; ,

Publication Date: 2017-08-29

Variant appearance in text: GJB1: Val63Ile

PubMed Link: 28768847

Variant Present in the following documents:

• Main text
• NEUROLOGY2017803221.pdf

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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: GJB1: 187G>A; Val63Ile

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: GJB1: V63I

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: GJB1: V63I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Biomed Research International

Høyer, Helle H; Braathen, Geir J GJ; Busk, Øyvind L ØL; Holla, Øystein L ØL; Svendsen, Marit M; Hilmarsen, Hilde T HT; Strand, Linda L; Skjelbred, Camilla F CF; Russell, Michael B MB

Publication Date: 2014

Variant appearance in text: GJB1: 187G>A

PubMed Link: 25025039

Variant Present in the following documents:

• Main text
• BMRI2014-210401.pdf

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Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Huang, Yan Y; Sirkowski, Erich E EE; Stickney, John T JT; Scherer, Steven S SS

Publication Date: 2005-08-03

Variant appearance in text: GJB1: V63I

PubMed Link: 16079393

Variant Present in the following documents:

• Main text

View BVdb publication page

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