Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.L41delFs
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PRPH2

NM_000322.5:p.L41delFs

Associated Papers

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M et al.

Human Mutation, 1999

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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."