Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.Y51C
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SMS

NM_004595.5:p.Y51C

Associated Papers

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Ewans LJ et al.

European Journal of Human Genetics : Ejhg, 2022

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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."