Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.D351N
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TP63

NM_003722.5:p.D351N

Associated Papers

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Friedmann I et al.

Molecular Genetics & Genomic Medicine, 2020

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Enriquez A et al.

American Journal of Medical Genetics. Part A, 2016

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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."