Varaico: Literature-Extracted Genetic Variants

Gene:TAF1
Variant:p.T1517P
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TAF1

NM_004606.5:p.T1517P

Associated Papers

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

Congenital Heart Defects Due to TAF1 Missense Variants.

Morton SU et al.

Circulation. Genomic and Precision Medicine, 2020

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA et al.

American Journal of Human Genetics, 2015

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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."