Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.K136delFs
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L2HGDH

NM_024884.3:p.K136delFs

Associated Papers

Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.

Han X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.

Shah H et al.

Movement Disorders Clinical Practice, 2020

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Zhang Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."