Publications:

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Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis

Xu, Chenyang C; Xiang, Yanbao Y; Li, Huanzheng H; Xu, Yunzhi Y; Mao, Yijian Y; Zhou, Lili L; Xu, Xueqin X; Tang, Shaohua S

Publication Date: 2021-02

Variant appearance in text: TYR: C289R

PubMed Link: 33124154

Variant Present in the following documents:

• Main text
• JCLA-35-e23647.pdf

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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: C289R

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: C289R

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: C289R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.

Iranian Journal Of Public Health

Pour-Jafari, H H; Zamanian, A A; Pour-Jafari, B B

Publication Date: 2010

Variant appearance in text: OCA1: C289R

PubMed Link: 23112997

Variant Present in the following documents:

• Main text
• ijph-39-100.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: TYR: C289R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

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