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: C677Y

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research

Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2016-12

Variant appearance in text: LDLR: C677Y

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

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A new mouse mutant for the LDL receptor identified using ENU mutagenesis.

Journal Of Lipid Research

Svenson, Karen L KL; Ahituv, Nadav N; Durgin, Rebecca S RS; Savage, Holly H; Magnani, Phyllis A PA; Foreman, Oded O; Paigen, Beverly B; Peters, Luanne L LL

Publication Date: 2008-11

Variant appearance in text: LDLR: C677Y

PubMed Link: 18632552

Variant Present in the following documents:

• Main text

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