Publications:

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Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

International Journal Of Molecular Sciences

Rocca, Camilla C; Tiberi, Lucia L; Bargiacchi, Sara S; Palazzo, Viviana V; Landini, Samuela S; Marziali, Elisa E; Caputo, Roberto R; Tinelli, Francesca F; Marchi, Viviana V; Benedetto, Alessandro A; Pagliazzi, Angelica A; Bacci, Giacomo Maria GM

Publication Date: 2022-07-15

Variant appearance in text: TYR: 325G>A; rs61753253

PubMed Link: 35887175

Variant Present in the following documents:

• Main text
• ijms-23-07825.pdf

View BVdb publication page

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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: 325G>A; Gly109Arg

PubMed Link: 35803923

Variant Present in the following documents:

• 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis

Xu, Chenyang C; Xiang, Yanbao Y; Li, Huanzheng H; Xu, Yunzhi Y; Mao, Yijian Y; Zhou, Lili L; Xu, Xueqin X; Tang, Shaohua S

Publication Date: 2021-02

Variant appearance in text: TYR: G109R

PubMed Link: 33124154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: TYR: 325G>A; Gly109Arg; rs61753253

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: TYR: 325G>A; rs61753253

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: OCA1A: G109R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: TYR: G109R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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