Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.F129L
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OBSCN

NM_001386125.1:p.F129L

Associated Papers

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Cabrera-Serrano M et al.

Brain : a Journal of Neurology, 2022

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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."