Varaico: Literature-Extracted Genetic Variants

Gene:SCARB2
Variant:p.T235Splc
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SCARB2

NM_005506.4:p.T235Splc

Associated Papers

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Atasu B et al.

Bmc Neurology, 2022

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

He J et al.

Chinese Medical Journal, 2018

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.

Tian WT et al.

Seizure, 2018

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Dibbens LM et al.

Annals of Neurology, 2009

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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."