Publications:

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Genes

La Cognata, Valentina V; Cavallaro, Sebastiano S

Publication Date: 2021-10-30

Variant appearance in text: NPC1: 1947+5G>C; rs770321568

PubMed Link: 34828358

Variant Present in the following documents:

• Main text
• genes-12-01750.pdf

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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.

Nature Communications

Schultz, Mark L ML; Krus, Kelsey L KL; Kaushik, Susmita S; Dang, Derek D; Chopra, Ravi R; Qi, Ling L; Shakkottai, Vikram G VG; Cuervo, Ana Maria AM; Lieberman, Andrew P AP

Publication Date: 2018-09-10

Variant appearance in text: NPC1: 1947+5G>C

PubMed Link: 30202070

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6115.pdf

View BVdb publication page