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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCARB2

Variant:p.W146S

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SCARB2

NM_005506.4:p.W146S

hg38:chr4:76179692 C>G

Associated Papers

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Dibbens L et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

27582254 (PubMed )

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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."