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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD1

Variant:p.R17P

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SMPD1

NM_000543.5:p.R17P

hg38:chr11:6390648 G>C

Associated Papers

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Wang R et al.

Hereditas, 2023

36907956 (PubMed )

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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."