Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.L533F
Back to variants list

SH3TC2

NM_024577.4:p.L533F

Associated Papers

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Vineeth VS et al.

Journal of Human Genetics, 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."