Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.C223Y
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SMPD1

NM_000543.5:p.C223Y

Associated Papers

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Fang Y et al.

Frontiers in Pediatrics, 2021

33763395 (PubMed )
Supplement: Data_Sheet_1.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."