Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.S392G
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NPC1L1

NM_001101648.2:p.S392G

Associated Papers

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo
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