Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRSS53

Variant:p.L229P

Back to variants list

PRSS53

NM_001039503.3:p.L229P

hg38:chr16:31086161 A>G

Associated Papers

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F et al.

Clinical Genetics, 2018

29364500 (PubMed )

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."