Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F342fs
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CFTR

NM_000492.4:p.F342fs

Associated Papers

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.

Richter LD et al.

Clinical Genetics, 2025

40468859 (PubMed )
Supplement: CGE-108-726-s001.xlsx › S1_Variant_Class

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Silver A et al.

Journal of Personalized Medicine, 2022

35629091 (PubMed )
Supplement: jpm-12-00667-s001.zip › jpm-1646052-supplementary.xlsx › Table_S1__Samples_

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_MOESM3_ESM.xls › TableS2

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

Fertility, Pregnancy and Lactation Considerations for Women with CF in the CFTR Modulator Era.

Jain R et al.

Journal of Personalized Medicine, 2021

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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."