Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G463S
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CFTR

NM_000492.4:p.G463S

Associated Papers

Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.

Smits RM et al.

Reproductive Biomedicine Online, 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 › INHOUSE_CFTR

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Oud MS et al.

Human Mutation, 2017

Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.

Mekus F et al.

Human Genetics, 2003

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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."