Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.M307I
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TP63

NM_003722.5:p.M307I

Associated Papers

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Yang W et al.

Molecular Genetics & Genomic Medicine, 2025

40964825 (PubMed )
Supplement: MGG3-13-e70140-s001.docx

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

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