Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M469I
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CFTR

NM_000492.4:p.M469I

Associated Papers

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

Phenotypic impact of CFTR mutations on male reproductive tract agenesis in a Chinese cohort with congenital absence of the vas deferens.

Li J et al.

Journal of Assisted Reproduction and Genetics, 2025

Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens.

Hu H et al.

Basic and Clinical Andrology, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Qu X et al.

Scientific Reports, 2023

36604502 (PubMed )
Supplement: 41598_2022_26384_MOESM1_ESM.xlsx › clinical_information

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

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

Frequency of allele variations in the CFTR gene in a Mexican population.

Cantú-Reyna C et al.

Bmc Medical Genomics, 2021

34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

Rudnik-Schöneborn S et al.

Human Reproduction (oxford, England), 2021

The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD).

Chiang HS et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2019

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

Yuan P et al.

Andrology, 2019

Basic and clinical genetic studies on male infertility in Iran during 2000-2016: A review.

Moghbelinejad S et al.

International Journal of Reproductive Biomedicine, 2018

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS et al.

Andrology, 2018

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

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.

Jiang L et al.

Gene, 2017

Exon 10 CFTR gene mutation in male infertility.

Hojati Z et al.

Iranian Journal of Reproductive Medicine, 2012

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

Wu CC et al.

Human Reproduction (oxford, England), 2005

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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."