Publications:

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.

Frontiers In Genetics

Marek-Yagel, Dina D; Abudi-Sinreich, Shachar S; Macarov, Michal M; Veber, Alvit A; Shalva, Nechama N; Philosoph, Amit Mary AM; Pode-Shakked, Ben B; Malicdan, May Christine V MCV; Anikster, Yair Y

Publication Date: 2022

Variant appearance in text: OCA2: G27R

PubMed Link: 36046236

Variant Present in the following documents:

• Main text
• fgene-13-936064.pdf

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A novel porcine model reproduces human oculocutaneous albinism type II.

Cell Discovery

Zhang, Ying Y; Hong, Qianlong Q; Cao, Chunwei C; Yang, Lizhu L; Li, Yongshun Y; Hai, Tang T; Zhang, Hongyong H; Zhou, Qi Q; Sui, Ruifang R; Zhao, Jianguo J

Publication Date: 2019

Variant appearance in text: OCA2: G27R

PubMed Link: 31636960

Variant Present in the following documents:

• Main text

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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: G27R; rs61738394

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: G27R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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