Phenogenon: Gene to phenotype associations for rare genetic diseases

Author:

Pontikos NikolasORCID,Murphy CianORCID,Moghul IsmailORCID,Arno Gavin,Fujinami Kaoru,Fujinami Yu,Sumodhee Dayyanah,Downes Susan,Webster Andrew,Yu JingORCID,

Funder

Moorfields Eye Charity Career Development Award

Retina UK

Biotechnology and Biological Sciences Research Council

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference30 articles.

1. dbSNP: the NCBI database of genetic variation;ST Sherry;Nucleic Acids Res,2001

2. ClinVar: Public archive of interpretations of clinically relevant variants;MJ Landrum;Nucleic Acids Res,2016

3. Data services and software for identifying genes and mutations causing retinal degeneration;F. P Daiger S;Iovs,1997

4. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy;PI Sergouniotis;Am J Hum Genet,2014

5. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration;G Arno;Am J Hum Genet,2017

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