Publications:

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: Y532C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Frontiers In Genetics

Dušková, Lucie L; Nohelová, Lucie L; Loja, Tomáš T; Fialová, Jana J; Zapletalová, Petra P; Réblová, Kamila K; Tichý, Lukáš L; Freiberger, Tomáš T; Fajkusová, Lenka L

Publication Date: 2020

Variant appearance in text: LDLR: 1595A>G; Tyr532Cys

PubMed Link: 32695144

Variant Present in the following documents:

• Main text
• fgene-11-00691.pdf

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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: 1595A>G; Tyr532Cys

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page