AKAP13 c.5290-2657A>G

Variant ID: 15-86233851-A-G

NM_007200.4(AKAP13):c.5290-2657A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics
El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2009-11

Variant appearance in text: rs338553
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page