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: 77C>G; Ser26Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic Spectrum of Inherited Neuropathies in India.

Annals Of Indian Academy Of Neurology

Sharma, Shivani S; Govindaraj, Periyasamy P; Chickabasaviah, Yasha T YT; Siram, Ramesh R; Shroti, Akhilesh A; Seshagiri, Doniparthi V DV; Debnath, Monojit M; Bindu, Parayil S PS; Taly, Arun B AB; Nagappa, Madhu M

Publication Date: 2022

Variant appearance in text: rs587777876

PubMed Link: 35936615

Variant Present in the following documents:

• AIAN-25-407.pdf

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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: 77C>G; Ser26Trp

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: S26W

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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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: S26W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: S26W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32.

The Journal Of Biological Chemistry

Brennan, Matthew J MJ; Karcz, Jennifer J; Vaughn, Nicholas R NR; Woolwine-Cunningham, Yvonne Y; DePriest, Adam D AD; Escalona, Yerko Y; Perez-Acle, Tomas T; Skerrett, I Martha IM

Publication Date: 2015-07-10

Variant appearance in text: CMTX: S26W

PubMed Link: 25969535

Variant Present in the following documents:

• Main text

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