Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.P76L
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SFTPC

NM_001317778.2:p.P76L

Associated Papers

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Cho K et al.

American Journal of Human Genetics, 2018

29455859 (PubMed )
Supplement: mmc2.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."