PC c.2443_2444del ;(p.A815Lfs*18)

Variant ID: 11-66618174-GGC-G

NM_001040716.1(PC):c.2443_2444del;(p.A815Lfs*18)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases
Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W
Publication Date: 2016-09-15

Variant appearance in text: PC: 2443_2444del
PubMed Link: 27629047
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_510.pdf
View BVdb publication page