Varaico: Literature-Extracted Genetic Variants

Gene:RNF128
Variant:p.S182F
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RNF128

NM_194463.2:p.S182F

Associated Papers

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

Malaspina P et al.

Neurochemistry International, 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."