Varaico: Literature-Extracted Genetic Variants

Gene:CD36
Variant:p.V339insFs
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CD36

NM_001001548.3:p.V339insFs

Associated Papers

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

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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."