Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.P254S
Back to variants list

OCRL

NM_000276.4:p.P254S

Associated Papers

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

Pasternack SM et al.

Klinische Padiatrie, 2013

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."