Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M1210I
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CFTR

NM_000492.4:p.M1210I

Associated Papers

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

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

Xie Y et al.

The Clinical Respiratory Journal, 2017

Atypical cystic fibrosis and CFTR-related diseases.

Paranjape SM et al.

Clinical Reviews in Allergy & Immunology, 2008

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 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."