DNAH11 c.427_430del ;(p.S143Kfs*24)

Variant ID: 7-21584699-TTCTC-T

NM_001277115.1(DNAH11):c.427_430del;(p.S143Kfs*24)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Molecular Genetics & Genomic Medicine
Dong, Weilai W; Kaymakcalan, Hande H; Jin, Sheng Chih SC; Diab, Nicholas S NS; Tanıdır, Cansaran C; Yalcin, Ali Seyfi Yalim ASY; Ercan-Sencicek, A Gulhan AG; Mane, Shrikant S; Gunel, Murat M; Lifton, Richard P RP; Bilguvar, Kaya K; Brueckner, Martina M
Publication Date: 2022-06

Variant appearance in text: DNAH11: 427_430del
PubMed Link: 35481623
Variant Present in the following documents:
  • MGG3-10-e1944.pdf
View BVdb publication page