Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T291I
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CFTR

NM_000492.4:p.T291I

Associated Papers

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Pereira SV et al.

Scientific Reports, 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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