Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.N171Y
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SFTPA2

NM_001098668.4:p.N171Y

Associated Papers

Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for Interstitial Lung Disease Treatment.

Desroziers T et al.

American Journal of Respiratory Cell and Molecular Biology, 2025

40591931 (PubMed )
Supplement: desroziers_data_supplement.pdf

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.

Legendre M et al.

The European Respiratory Journal, 2020

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

SFTPA2 Mutations in Familial and Sporadic Idiopathic Interstitial Pneumonia.

van Moorsel CH et al.

American Journal of Respiratory and Critical Care Medicine, 2015

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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."