Publications:

Editorial: Genetic Mutations Associated With Ocular Diseases.

Frontiers In Cell And Developmental Biology

Yu, Minzhong M; Bouhenni, Rachida R; Kurup, Shree K SK; He, Wei W

Publication Date: 2021

Variant appearance in text: RP2: 353G>T

PubMed Link: 35004704

Variant Present in the following documents:

• Main text

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L

Publication Date: 2021-02-01

Variant appearance in text: RP2: 353G>T; Arg118Leu; rs28933687

PubMed Link: 33576794

Variant Present in the following documents:

• iovs-62-2-13_s001.xlsx, sheet 6
• iovs-62-2-13_s001.xlsx, sheet 8

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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: N/A

PubMed Link: 26659599

Variant Present in the following documents:

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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: RP2: R118L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page