Publications:

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: 1895A>T; Asn632Ile

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

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Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Advances In Therapy

Ben-Omran, Tawfeg T; Masana, Luis L; Kolovou, Genovefa G; Ariceta, Gema G; Nóvoa, F Javier FJ; Lund, Allan M AM; Bogsrud, Martin P MP; Araujo, María M; Hussein, Osamah O; Ibarretxe, Daiana D; Sanchez-Hernández, Rosa M RM; Santos, Raul D RD

Publication Date: 2019-07

Variant appearance in text: LDLR: 1895A>T

PubMed Link: 31102204

Variant Present in the following documents:

• Main text

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