Publications:

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Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Molecular Genetics & Genomic Medicine

Bedoukian, Emma C EC; Rentas, Stefan S; Skraban, Cara C; Shao, Qing Q; Treat, James J; Laird, Dale W DW; Sullivan, Kathleen E KE

Publication Date: 2021-02

Variant appearance in text: GJB1: 101T>A; Met34Lys

PubMed Link: 33443819

Variant Present in the following documents:

• Main text
• MGG3-9-e1574.pdf

View BVdb publication page

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A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.

Nature Communications

Coelho, João P L JPL; Stahl, Matthias M; Bloemeke, Nicolas N; Meighen-Berger, Kevin K; Alvira, Carlos Piedrafita CP; Zhang, Zai-Rong ZR; Sieber, Stephan A SA; Feige, Matthias J MJ

Publication Date: 2019-02-08

Variant appearance in text: GJB1: M34K

PubMed Link: 30737405

Variant Present in the following documents:

• 41467_2019_Article_8632.pdf

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: M34K

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: M34K

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.pdf

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: GJB1: M34K

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: M34K

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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