Varaico: Literature-Extracted Genetic Variants

Gene:EIPR1
Variant:p.V140D
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EIPR1

NM_003310.5:p.V140D

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

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