Varaico: Literature-Extracted Genetic Variants

Gene:TCF4
Variant:p.T606A
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TCF4

NM_001083962.2:p.T606A

Associated Papers

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Zhao T et al.

Orphanet Journal of Rare Diseases, 2024

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.

Zhao T et al.

Neurogenetics, 2021

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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."