Publications:

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Highly efficient A-to-G base editing by ABE8.17 in rabbits.

Molecular Therapy. Nucleic Acids

Zhao, Ding D; Qian, Yuqiang Y; Li, Jinze J; Li, Zhanjun Z; Lai, Liangxue L

Publication Date: 2022-03-08

Variant appearance in text: OCA1: T325A

PubMed Link: 35282412

Variant Present in the following documents:

• Main text
• main.pdf
• mmc3.pdf

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Functional in silico analysis of human tyrosinase and OCA1 associated mutations.

Journal Of Analytical & Pharmaceutical Research

Patel, Milan M; Sergeev, Yuri Y

Publication Date: 2020

Variant appearance in text: OCA1: T325A

PubMed Link: 33458560

Variant Present in the following documents:

• Main text
• nihms-1637382.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: T325A

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: T325A

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: T325A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: T325A

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 1
• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology

Hutton, Saunie M SM; Spritz, Richard A RA

Publication Date: 2008-10

Variant appearance in text: OCA1: 973A>G

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

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