Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.A508V
Back to variants list

EYA1

NM_000503.6:p.A508V

Associated Papers

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Chen AT et al.

Plos One, 2019

31765440 (PubMed )
Supplement: pone.0225656.s001.xlsx › Table_S1

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."