Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.P1009delFs
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NPC1

NM_000271.5:p.P1009delFs

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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