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: OCA1: A481T

PubMed Link: 36046236

Variant Present in the following documents:

• Main text
• fgene-13-936064.pdf

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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications

Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2022-07-08

Variant appearance in text: TYR: 1441G>A; Ala481Thr

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

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New Prognostic Biomarkers and Drug Targets for Skin Cutaneous Melanoma via Comprehensive Bioinformatic Analysis and Validation.

Frontiers In Oncology

Zhou, Sitong S; Han, Yuanyuan Y; Li, Jiehua J; Pi, Xiaobing X; Lyu, Jin J; Xiang, Shijian S; Zhou, Xinzhu X; Chen, Xiaodong X; Wang, Zhengguang Z; Yang, Ronghua R

Publication Date: 2021

Variant appearance in text: TYR: 1441G>A

PubMed Link: 34722301

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research

Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J

Publication Date: 2019-09

Variant appearance in text: OCA1: 1441G>A

PubMed Link: 31077556

Variant Present in the following documents:

• PCMR-32-672.pdf

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Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Scientific Reports

Endo, Chihiro C; Johnson, Todd A TA; Morino, Ryoko R; Nakazono, Kazuyuki K; Kamitsuji, Shigeo S; Akita, Masanori M; Kawajiri, Maiko M; Yamasaki, Tatsuya T; Kami, Azusa A; Hoshi, Yuria Y; Tada, Asami A; Ishikawa, Kenichi K; Hine, Maaya M; Kobayashi, Miki M; Kurume, Nami N; Tsunemi, Yuichiro Y; Kamatani, Naoyuki N; Kawashima, Makoto M

Publication Date: 2018-06-12

Variant appearance in text: TYR: A481T

PubMed Link: 29895819

Variant Present in the following documents:

• Main text

View BVdb publication page