Varaico: Literature-Extracted Genetic Variants

Gene:TAF13
Variant:p.M40K
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TAF13

NM_005645.4:p.M40K

Associated Papers

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

Arı H et al.

American Journal of Medical Genetics. Part A, 2025

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

Tawamie H et al.

American Journal of Human Genetics, 2017

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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."