CFTR c.1513A>C ;(p.N505H)

Variant ID: 7-117199638-A-C

NM_000492.3(CFTR):c.1513A>C;(p.N505H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 1513A>C
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
  • genes-11-00554.pdf
View BVdb publication page