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: 643C>T; Arg215Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 643C>T; Arg215Trp

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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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Case Reports In Neurology

Kovale, Sabine S; Terauda, Ruta R; Millere, Elina E; Taurina, Gita G; Murmane, Daiga D; Isakova, Jekaterina J; Kenina, Viktorija V; Gailite, Linda L

Publication Date: 2021

Variant appearance in text: GJB1: 643C>T; rs879254099

PubMed Link: 34326750

Variant Present in the following documents:

• Main text
• crn-0013-0422.pdf

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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: R215W

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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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: R215W

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: R215W

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

View BVdb publication page

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Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants.

Chinese Medical Journal

Tang, Bei-Sha BS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: 643C>T

PubMed Link: 27098782

Variant Present in the following documents:

• CMJ-129-1009.pdf

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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: R215W

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: R215W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors.

Orphanet Journal Of Rare Diseases

Mones, Saleh S; Gess, Burkhardt B; Bordignon, Benoit B; Altié, Alexandre A; Young, Peter P; Bihel, Frederic F; Fraterno, Marc M; Peiretti, Franck F; Fontes, Michel M; Saleh, Mones M; Burkhardt, Gess G; Benoit, Bordignon B; Alexandre, Altié A; Peter, Young Y; Frederic, Bihel B; Marc, Fraterno F; Franck, Peiretti P; Michel, Fontes F

Publication Date: 2015-05-07

Variant appearance in text: CMTX1: R215W

PubMed Link: 25947624

Variant Present in the following documents:

• Main text
• 13023_2015_Article_270.pdf

View BVdb publication page

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Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd

Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM

Publication Date: 2012-07

Variant appearance in text: GJB1: Arg215Trp

PubMed Link: 22464564

Variant Present in the following documents:

• Main text

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Structural basis for the selective permeability of channels made of communicating junction proteins.

Biochimica Et Biophysica Acta

Ek-Vitorin, Jose F JF; Burt, Janis M JM

Publication Date: 2013-01

Variant appearance in text: CX32: R215W

PubMed Link: 22342665

Variant Present in the following documents:

• Main text

View BVdb publication page

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