Publications:

Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: LDLR: Thr434Arg

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.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: T434R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1301C>G; Thr434Arg

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

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Management of homozygous familial hypercholesterolaemia in two brothers.

Bmj Case Reports

Real, José J; Arbona, Cristina C; Goterris, Rosa R; Ascaso, Juan Francisco JF

Publication Date: 2018-01-06

Variant appearance in text: LDLR: Thr434Arg

PubMed Link: 29306853

Variant Present in the following documents:

• Main text
• bcr-2017-222155.pdf

View BVdb publication page