Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.L50V
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SFTPA1

NM_005411.5:p.L50V

Associated Papers

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

SP-A1, SP-A2 and SP-D gene polymorphisms in severe acute respiratory syncytial infection in Chilean infants.

Ampuero S et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2011

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN et al.

Human Genomics, 2011

Polymorphisms in the surfactant protein a gene are associated with the susceptibility to recurrent urinary tract infection in chinese women.

Liu J et al.

The Tohoku Journal of Experimental Medicine, 2010

Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate.

van Diemen CC et al.

The European Respiratory Journal, 2010

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