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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD1

Variant:p.G504*

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SMPD1

NM_000543.5:p.G504*

hg38:chr11:6394221 G>T

Associated Papers

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

30788890 (PubMed )

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