Varaico: Literature-Extracted Genetic Variants

Gene:ADSS2
Variant:p.V304I
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ADSS2

NM_001126.5:p.V304I

Associated Papers

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.

Park HJ et al.

Annals of Neurology, 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."