Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.I96I
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SFTPC

NM_001317778.2:p.I96I

Associated Papers

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

Baekvad-Hansen M et al.

Respiratory Medicine, 2010

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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."