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Article

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.

American journal of medical genetics. Part A - 1 Jul 2025

Brown Caroline Gully, Bower Matthew, Schomaker Matthew, Goldstein Jessica, Jarnes Jeanine, Whitley Chester B, Pillai Nishitha R

Abstract excerpt

An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14-year-old male with Niemann-Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (NGS) data identified a c.709C>T; p.Pro237Ser variant, which was likely...

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PMID: 40026274
DOI: 10.1002/ajmg.a.64012

Genes

NPC1

Variants

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