Publications:

Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Frontiers In Genetics

Chen, Fan F; Guo, Shan S; Li, Xuesong X; Liu, Shengxuan S; Wang, Li L; Zhang, Victor Wei VW; Xu, Hui H; Huang, Zhihua Z; Ying, Yanqin Y; Shu, Sainan S

Publication Date: 2022

Variant appearance in text: NPC1: Leu1213Phe

PubMed Link: 35360843

Variant Present in the following documents:

• Main text
• fgene-13-845246.pdf

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Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics

Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE

Publication Date: 2020-01-01

Variant appearance in text: NPC1: L1213F

PubMed Link: 31509197

Variant Present in the following documents:

• Main text

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Scientific Reports

Shammas, Hadeel H; Kuech, Eva-Maria EM; Rizk, Sandra S; Das, Anibh M AM; Naim, Hassan Y HY

Publication Date: 2019-03-28

Variant appearance in text: NPC1: L1213F

PubMed Link: 30923329

Variant Present in the following documents:

• Main text
• 41598_2019_Article_41707.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: L1213F

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: L1213F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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