Publications:

Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs113371321

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: A1187G

PubMed Link: 26981555

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

Nature Communications

Nones, Katia K; Waddell, Nicola N; Wayte, Nicci N; Patch, Ann-Marie AM; Bailey, Peter P; Newell, Felicity F; Holmes, Oliver O; Fink, J Lynn JL; Quinn, Michael C J MCJ; Tang, Yue Hang YH; Lampe, Guy G; Quek, Kelly K; Loffler, Kelly A KA; Manning, Suzanne S; Idrisoglu, Senel S; Miller, David D; Xu, Qinying Q; Waddell, Nick N; Wilson, Peter J PJ; Bruxner, Timothy J C TJC; Christ, Angelika N AN; Harliwong, Ivon I; Nourse, Craig C; Nourbakhsh, Ehsan E; Anderson, Matthew M; Kazakoff, Stephen S; Leonard, Conrad C; Wood, Scott S; Simpson, Peter T PT; Reid, Lynne E LE; Krause, Lutz L; Hussey, Damian J DJ; Watson, David I DI; Lord, Reginald V RV; Nancarrow, Derek D; Phillips, Wayne A WA; Gotley, David D; Smithers, B Mark BM; Whiteman, David C DC; Hayward, Nicholas K NK; Campbell, Peter J PJ; Pearson, John V JV; Grimmond, Sean M SM; Barbour, Andrew P AP

Publication Date: 2014-10-29

Variant appearance in text: rs113371321

PubMed Link: 25351503

Variant Present in the following documents:

• NIHMS64791-supplement-Supplementary_data_3.xlsx, sheet 1

View BVdb publication page