Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.F1051fs
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NPC1

NM_000271.5:p.F1051fs

Associated Papers

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Kim MJ et al.

Annals of Laboratory Medicine, 2023

36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2
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