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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSF3

Variant:p.V140D

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CSF3

NM_172219.3:p.V140D

hg38:chr17:40016600 T>A

Associated Papers

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Ghosh S et al.

Brain : a Journal of Neurology, 2025

41058046 (PubMed )

Supplement: awaf371_supplementary_data.zip › brain-2024-02167-File010.pdf

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