Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A72T
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CFTR

NM_000492.4:p.A72T

Associated Papers

Elevated salivary amylase levels in paediatric acute recurrent pancreatitis: possible involvement of CFTR mutations.

Honda H et al.

Bmj Case Reports, 2026

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.

Zhou W et al.

Orphanet Journal of Rare Diseases, 2025

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

A review of cystic fibrosis: Basic and clinical aspects.

Chen Q et al.

Animal Models and Experimental Medicine, 2021

Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants.

Guo J et al.

Frontiers in Pediatrics, 2021

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

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Li H et al.

Frontiers in Pediatrics, 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 › EXAC_CFTR

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Wang NL et al.

Plos One, 2016

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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."