Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G921R
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CFTR

NM_000492.4:p.G921R

Associated Papers

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

Atag E et al.

Pediatric Pulmonology, 2019

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."