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Paper Details

Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Cold Spring Harb Mol Case Stud
11
2017
NPC, NPC1, NPC1 variant, Niemann-Pick type C disease, Niemann-Pick type C1 disease, autosomal recessive disorder, cholestasis, cholesterol, inborn error of intracellular cholesterol trafficking, infant, liver dysfunction, neonatal cholestasis, neurological disorder
Author NameAffiliation
Serge BatalovRady Children's Institute of Genomic Medicine
David DimmockRady Children's Institute of Genomic Medicine
Stephen F KingsmoreRady Children's Institute of Genomic Medicine
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Release 1.2