Publications:

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications

Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2022-07-08

Variant appearance in text: TYR: 816G>T; Trp272Cys

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

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Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research

Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2018

Variant appearance in text: OCAIA: W272C

PubMed Link: 30868138

Variant Present in the following documents:

• Main text
• nihms-1008828.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: OCA1A: W272C

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: TYR: W272C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page