CFTR c.415_416insTTC ;(p.L138dup)

Variant ID: 7-117171093-A-ACTT

NM_000492.3(CFTR):c.415_416insTTC;(p.L138dup)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics
Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H
Publication Date: 2019

Variant appearance in text: CFTR: Leu138_His139insLeu
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page



Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Orphanet Journal Of Rare Diseases
Guo, Xiaobei X; Liu, Keqiang K; Liu, Yaping Y; Situ, Yusen Y; Tian, Xinlun X; Xu, Kai-Feng KF; Zhang, Xue X
Publication Date: 2018-12-17

Variant appearance in text: CFTR: L138_H139insL
PubMed Link: 30558651
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_968.pdf
View BVdb publication page