CP c.934G>C ;(p.D312H)

Variant ID: 3-148925252-C-G

NM_000096.3(CP):c.934G>C;(p.D312H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Splitting p63.

American Journal Of Human Genetics
van Bokhoven, Hans H; Brunner, Han G HG
Publication Date: 2002-07

Variant appearance in text: CP: D312H
PubMed Link: 12037717
Variant Present in the following documents:
  • Main text
View BVdb publication page



p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

American Journal Of Human Genetics
van Bokhoven, H H; Hamel, B C BC; Bamshad, M M; Sangiorgi, E E; Gurrieri, F F; Duijf, P H PH; Vanmolkot, K R KR; van Beusekom, E E; van Beersum, S E SE; Celli, J J; Merkx, G F GF; Tenconi, R R; Fryns, J P JP; Verloes, A A; Newbury-Ecob, R A RA; Raas-Rotschild, A A; Majewski, F F; Beemer, F A FA; Janecke, A A; Chitayat, D D; Crisponi, G G; Kayserili, H H; Yates, J R JR; Neri, G G; Brunner, H G HG
Publication Date: 2001-09

Variant appearance in text: CP: D312H
PubMed Link: 11462173
Variant Present in the following documents:
  • Main text
View BVdb publication page