Varaico: Literature-Extracted Genetic Variants

Gene:CAST
Variant:p.V182F
Back to variants list

CAST

NM_001042440.5:p.V182F

Associated Papers

A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing.

Mamivand A et al.

Clinical and Experimental Dermatology, 2023

PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.

Hu B et al.

Clinical and Experimental Dermatology, 2023

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.

Temel ŞG et al.

Cell and Tissue Research, 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."