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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCF4

Variant:p.P144delFs

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TCF4

NM_001083962.2:p.P144delFs

hg38:chr18:55350941 AG>A

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

38331897 (PubMed )

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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."