Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.P125fs
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SUCLA2

NM_003850.3:p.P125fs

Associated Papers

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

Maas RR et al.

Jimd Reports, 2016

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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."