Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P188S
Back to variants list

CASR

NM_000388.4:p.P188S

Associated Papers

The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.

Liu XW et al.

Clinical Neurology and Neurosurgery, 2018

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."