Publications:

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: rs140566426

PubMed Link: 30414346

Variant Present in the following documents:

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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: M446V

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: M446V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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An intracellular anion channel critical for pigmentation.

Elife

Bellono, Nicholas W NW; Escobar, Iliana E IE; Lefkovith, Ariel J AJ; Marks, Michael S MS; Oancea, Elena E

Publication Date: 2014-12-16

Variant appearance in text: OCA2: M446V

PubMed Link: 25513726

Variant Present in the following documents:

• Main text
• elife04543.pdf

View BVdb publication page