Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1212I
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CFTR

NM_000492.4:p.V1212I

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Xie Y et al.

The Clinical Respiratory Journal, 2017

Laboratory tests for the diagnosis of cystic fibrosis.

Wang L et al.

American Journal of Clinical Pathology, 2002

Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.

Clain J et al.

The Journal of Biological Chemistry, 2001

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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."