Publications:

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology

R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng

Publication Date: 2019-02

Variant appearance in text: N/A

PMID: 30779729

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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics

NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin

Publication Date: 2015

Variant appearance in text: PCSK9: 1856A>C; Q619P; rs28362277

PMID: 25904937

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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism

CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard

Publication Date: 2015-02

Variant appearance in text: PCSK9: Q619P

PMID: 25412415

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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One

K Ding, SJ McDonough, IJ Kullo

Publication Date: 2007-10-31

Variant appearance in text: PCSK9: Q619P

PMID: 17971861

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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics

IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs

Publication Date: 2006-03

Variant appearance in text: PCSK9: 1856A>C; Q619P

PMID: 16465619

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Alternative transcript annotations: