Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.G508D
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TGM6

NM_198994.3:p.G508D

Associated Papers

Uridine Treatment of the First Known Case of SLC25A36 Deficiency.

Jasper L et al.

International Journal of Molecular Sciences, 2021

34576089 (PubMed )
Supplement: ijms-22-09929-s001.zip › ijms-1345284-supplementary.xlsx › Tabelle1

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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