Publications:

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: OCA2: M394I; rs121918171

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports

Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,

Publication Date: 2017-03-07

Variant appearance in text: OCA2: 1182G>A

PubMed Link: 28266639

Variant Present in the following documents:

• srep44185-s1.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: OCA2: M394I

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: OCA2: M394I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: OCA2: Met394Ile

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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