Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1230T
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CFTR

NM_000492.4:p.I1230T

Associated Papers

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

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N et al.

Human Reproduction (oxford, England), 1999

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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."