Varaico: Literature-Extracted Genetic Variants

Gene:NPRL2
Variant:p.C378Y
Back to variants list

NPRL2

NM_006545.5:p.C378Y

Associated Papers

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.

Park HJ et al.

Orphanet Journal of Rare Diseases, 2020

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."