Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.A34insFs
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TBX5

NM_181486.4:p.A34insFs

Associated Papers

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.

Borozdin W et al.

Human Mutation, 2006

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Mori AD et al.

Current Opinion in Cardiology, 2004

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Brassington AM et al.

American Journal of Human Genetics, 2003

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