Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERQ
Variant:p.R172C
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CATSPERQ

NM_001252404.3:p.R172C

Associated Papers

Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis.

Liu L et al.

Molecular Genetics & Genomic Medicine, 2020

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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."