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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSA

Variant:p.P286fs

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ARSA

NM_000487.6:p.P286fs

hg38:chr22:50626277 AGG>N

Associated Papers

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Hammoud M et al.

Genes, 2024

39766783 (PubMed )

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