Publications:

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Genes

Bizzari, Sami S; Nair, Pratibha P; Deepthi, Asha A; Hana, Sayeeda S; Al-Ali, Mahmoud Taleb MT; Megarbané, André A; El-Hayek, Stephany S

Publication Date: 2021-09-27

Variant appearance in text: rs121908031

PubMed Link: 34680914

Variant Present in the following documents:

• Main text
• genes-12-01518.pdf

View BVdb publication page

Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs121908031

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: C681W

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page