Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1270G
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CFTR

NM_000492.4:p.D1270G

Associated Papers

Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.

Kluska A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 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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