Varaico: Literature-Extracted Genetic Variants

Gene:RPE
Variant:p.P130insFs
Back to variants list

RPE

NM_199229.3:p.P130insFs

Associated Papers

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."