Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.G178E
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COQ4

NM_016035.5:p.G178E

Associated Papers

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.

Schierbaum L et al.

Movement Disorders Clinical Practice, 2024

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.

Wei Q et al.

Cns Neuroscience & Therapeutics, 2024

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1
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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."