Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA2
Variant:p.N210T
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SFTPA2

NM_001098668.4:p.N210T

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

Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.

Groen K et al.

International Journal of Molecular Sciences, 2023

Rare surfactant-related variants in familial and sporadic pulmonary fibrosis.

Sutton RM et al.

Human Mutation, 2022

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."