Publications:

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

MT Oetjens, MA Kelly, AC Sturm, CL Martin, DH Ledbetter

Publication Date: 2019-10-25

Variant appearance in text: PCSK9: Ser465Leu

PMID: 31653860

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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports

MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato

Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 1394C>T; Ser465Leu; rs778849441

PMID: 29127338

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics

PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold

Publication Date: 2015-12

Variant appearance in text: PCSK9: Ser465Leu

PMID: 26374825

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Alternative transcript annotations: