Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.A346D
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TP63

NM_003722.5:p.A346D

Associated Papers

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

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Alves LU et al.

Genetics and Molecular Biology, 2015

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