Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.C347F
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TP63

NM_003722.5:p.C347F

Associated Papers

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Npj Genomic Medicine, 2025

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools.

Akter S et al.

Biomolecules, 2021

TP63-related disorders: two case reports and a brief review of the literature.

Nanda A et al.

Dermatology Online Journal, 2021

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S et al.

Nature Genetics, 2002

Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation--Expanding the Phenotypic Spectrum.

Ruml J et al.

Pediatric Dermatology, 0

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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."