Varaico: Literature-Extracted Genetic Variants

Gene:GM2A
Variant:p.A19T
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GM2A

NM_000405.5:p.A19T

Associated Papers

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Lopergolo D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Coassin S et al.

Circulation. Genomic and Precision Medicine, 2022

35133173 (PubMed )
Supplement: hcg-15-e003489-s001.pdf
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