Publications:

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Phylogenetic Analysis of Core Melanin Synthesis Genes Provides Novel Insights Into the Molecular Basis of Albinism in Fish.

Frontiers In Genetics

Bian, Chao C; Li, Ruihan R; Wen, Zhengyong Z; Ge, Wei W; Shi, Qiong Q

Publication Date: 2021

Variant appearance in text: OCA3: Arg93Cys

PubMed Link: 34422008

Variant Present in the following documents:

• Main text
• fgene-12-707228.pdf

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: TYRP1: 277C>T; R93C; rs387907171

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

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RadAA: A Command-line Tool for Identification of Radical Amino Acid Changes in Multiple Sequence Alignments.

Molecular Informatics

Seim, Inge I; Baker, Andrew M AM; Chopin, Lisa K LK

Publication Date: 2019-01

Variant appearance in text: TYRP1: Arg93Cys

PubMed Link: 30019526

Variant Present in the following documents:

• Main text
• MINF-38-na.pdf

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On the Metal Cofactor in the Tyrosinase Family.

International Journal Of Molecular Sciences

Solano, Francisco F

Publication Date: 2018-02-23

Variant appearance in text: OCA3: R93C

PubMed Link: 29473882

Variant Present in the following documents:

• Main text
• ijms-19-00633.pdf

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Adaptation of human skin color in various populations.

Hereditas

Deng, Lian L; Xu, Shuhua S

Publication Date: 2018

Variant appearance in text: rs387907171

PubMed Link: 28701907

Variant Present in the following documents:

• Main text

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Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.

Angewandte Chemie (International Ed. In English)

Lai, Xuelei X; Wichers, Harry J HJ; Soler-Lopez, Montserrat M; Dijkstra, Bauke W BW

Publication Date: 2017-08-07

Variant appearance in text: TYRP1: R93C

PubMed Link: 28661582

Variant Present in the following documents:

• Main text
• ANIE-56-9812.pdf

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MC1R diversity in Northern Island Melanesia has not been constrained by strong purifying selection and cannot explain pigmentation phenotype variation in the region.

Bmc Genetics

Norton, Heather L HL; Werren, Elizabeth E; Friedlaender, Jonathan J

Publication Date: 2015-10-19

Variant appearance in text: rs387907171

PubMed Link: 26482799

Variant Present in the following documents:

• Main text
• 12863_2015_Article_277.pdf

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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: TYRP1: R93C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.

Biomed Research International

Kamaraj, Balu B; Purohit, Rituraj R

Publication Date: 2013

Variant appearance in text: TYRP1: R93C

PubMed Link: 23862152

Variant Present in the following documents:

• Main text

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Human pigmentation genes under environmental selection.

Genome Biology

Sturm, Richard A RA; Duffy, David L DL

Publication Date: 2012-09-26

Variant appearance in text: TYRP1: Arg93Cys

PubMed Link: 23110848

Variant Present in the following documents:

• Main text
• gb-2012-13-9-248.pdf

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Melanesian blond hair is caused by an amino acid change in TYRP1.

Science (New York, N.Y.)

Kenny, Eimear E EE; Timpson, Nicholas J NJ; Sikora, Martin M; Yee, Muh-Ching MC; Moreno-Estrada, Andrés A; Eng, Celeste C; Huntsman, Scott S; Burchard, Esteban González EG; Stoneking, Mark M; Bustamante, Carlos D CD; Myles, Sean S

Publication Date: 2012-05-04

Variant appearance in text: TYRP1: R93C

PubMed Link: 22556244

Variant Present in the following documents:

• Main text

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