Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.R242Q
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SFTPA1

NM_005411.5:p.R242Q

Associated Papers

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.

Alonso-González A et al.

The Lancet. Respiratory Medicine, 2025

40311650 (PubMed )
Supplement: mmc1.pdf

High risk of lung cancer in surfactant-related gene variant carriers.

Brudon A et al.

The European Respiratory Journal, 2024

Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.

Tague LK et al.

Jci Insight, 2023

36853803 (PubMed )
Supplement: jciinsight-8-165609-s144.pdf
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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."