TTN c.98456C>G ;(p.P32819R)

Variant ID: 2-179404336-G-C

NM_001267550.1(TTN):c.98456C>G;(p.P32819R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Bmc Medical Genetics
Khan, Amjad A; Wang, Rongrong R; Han, Shirui S; Umair, Muhammad M; Abbas, Safdar S; Khan, Muhammad Ismail MI; Alshabeeb, Mohammad A MA; Alfadhel, Majid M; Zhang, Xue X
Publication Date: 2019-10-29

Variant appearance in text: TTN: 98456C>G
PubMed Link: 31664938
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_895.pdf
View BVdb publication page