Varaico: Literature-Extracted Genetic Variants

Gene:PRSS8
Variant:p.Q235_G236Splc
Back to variants list

PRSS8

NM_002773.5:p.Q235_G236Splc

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Shamseldin HE et al.

Human Genetics, 2023

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."