Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.G325insFs
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SACS

NM_014363.6:p.G325insFs

Associated Papers

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Ortigoza-Escobar JD

Frontiers in Neurology, 2020

33281718 (PubMed )
Supplement: Table_6.DOCX
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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."