Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.D289Splc
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SMS

NM_004595.5:p.D289Splc

Associated Papers

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.

Leung M et al.

Rare (amsterdam, Netherlands), 2024

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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."