Varaico: Literature-Extracted Genetic Variants

Gene:SFTPD
Variant:p.M31T
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SFTPD

NM_003019.5:p.M31T

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.

Cobat A et al.

Annual Review of Biomedical Data Science, 2023

ELF5 is a potential respiratory epithelial cell-specific risk gene for severe COVID-19.

Pietzner M et al.

Nature Communications, 2022

Association of surfactant protein D gene polymorphism with susceptibility to gestational diabetes mellitus: a case-control study.

Xu J et al.

Bmc Pregnancy and Childbirth, 2022

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Fallerini C et al.

Human Genetics, 2022

34889978 (PubMed )
Supplement: 439_2021_2397_MOESM19_ESM.xlsx › Foglio1

Single Nucleotide Polymorphisms (SNP) and SNP-SNP Interactions of the Surfactant Protein Genes Are Associated With Idiopathic Pulmonary Fibrosis in a Mexican Study Group; Comparison With Hypersensitivity Pneumonitis.

Abbasi A et al.

Frontiers in Immunology, 2022

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

Moll M et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Genetic variants of pulmonary SP-D predict disease outcome of COPD in a Chinese population.

Ou CY et al.

Respirology (carlton, Vic.), 2015

Surfactant protein A genetic variants associate with severe respiratory insufficiency in pandemic influenza A virus infection.

Herrera-Ramos E et al.

Critical Care (london, England), 2014

Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.

Gower WA et al.

The Journal of Pediatrics, 2013

A study of collectin genes in spontaneous preterm birth reveals an association with a common surfactant protein D gene polymorphism.

Karjalainen MK et al.

Pediatric Research, 2012

Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia.

Mailaparambil B et al.

Disease Markers, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_
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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."