Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.C347S
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TP63

NM_003722.5:p.C347S

Associated Papers

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.

Gall A et al.

Frontiers in Immunology, 2024

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

Nanda A et al.

Dermatology Online Journal, 2021

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Jin JY et al.

The Journal of Gene Medicine, 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
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