Varaico: Literature-Extracted Genetic Variants

Gene:TBX1
Variant:p.P290S
Back to variants list

TBX1

NM_005992.1:p.P290S

Associated Papers

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

Griffin HR et al.

Heart (british Cardiac Society), 2010

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."