Varaico: Literature-Extracted Genetic Variants

Gene:TBX3
Variant:p.R385S
Back to variants list

TBX3

NM_005996.4:p.R385S

Associated Papers

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Hori I et al.

Journal of Human Genetics, 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."