Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R251_A252delFs
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CFTR

NM_000492.4:p.R251_A252delFs

Associated Papers

Cystic fibrosis caused by homozygous CFTR gene mutation leading to pulmonary involvement: a case report.

Duan JP et al.

American Journal of Translational Research, 2025

A Case Report of the First Filipino Infant Diagnosed with Cystic Fibrosis through the Philippine Newborn Screening Program.

Almonte CS et al.

Acta Medica Philippina, 2024

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Yang B et al.

Frontiers in Genetics, 2021

34276759 (PubMed )
Supplement: Data_Sheet_1.docx

c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

Wang YQ et al.

World Journal of Clinical Cases, 2019

Cardiomyopathy and cystic fibrosis--case report.

Kokstein Z et al.

Acta Universitatis Carolinae. Medica, 1990

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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."