CFTR c.1733_1734del ;(p.L578Rfs*10)

Variant ID: 7-117230460-CTA-C

NM_000492.3(CFTR):c.1733_1734del;(p.L578Rfs*10)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1733_1734del; Leu578fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Oman Medical Journal
Al Oraimi, Sumaya S; Al Shidhani, Khoula K; Al Harthi, Hasina H; Al Sinani, Suaad S; Al Busaidi, Nasser N; Al Bimani, Muna M; Al Salmi, Qasem Q; Al Kindi, Hussein H
Publication Date: 2022-11

Variant appearance in text: CFTR: Leu578Argfs
PubMed Link: 36458240
Variant Present in the following documents:
  • Main text
  • OMJ-37-06-2200006.pdf
View BVdb publication page



Growth assessment and risk factors of malnutrition in children with cystic fibrosis.

Saudi Medical Journal
Isa, Hasan M HM; Al-Ali, Lina F LF; Mohamed, Afaf M AM
Publication Date: 2016-03

Variant appearance in text: CFTR: 1733_1734delTA
PubMed Link: 26905352
Variant Present in the following documents:
  • Main text
View BVdb publication page



Repository of mutations from Oman: The entry point to a national mutation database.

F1000Research
Rajab, Anna A; Hamza, Nishath N; Al Harasi, Salma S; Al Lawati, Fatma F; Gibbons, Una U; Al Alawi, Intesar I; Kobus, Karoline K; Hassan, Suha S; Mahir, Ghariba G; Al Salmi, Qasim Q; Mons, Barend B; Robinson, Peter P
Publication Date: 2015

Variant appearance in text: CFTR: 1733_1734delTA
PubMed Link: 26594346
Variant Present in the following documents:
  • Main text
  • f1000research-4-7471.pdf
View BVdb publication page



Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

Sultan Qaboos University Medical Journal
Fass, Uwe W UW; Al-Salmani, Majid M; Bendahhou, Said S; Shivalingam, Ganji G; Norrish, Catherine C; Hebal, Kallesh K; Clark, Fiona F; Heming, Thomas T; Al-Khusaiby, Saleh S
Publication Date: 2014-08

Variant appearance in text: CFTR: 1733_1734delTA; Leu578Argfs*10
PubMed Link: 25097766
Variant Present in the following documents:
  • Main text
View BVdb publication page