LDLR c.121_179del ;(p.S41Gfs*69)

Variant ID: 19-11210952-CTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCA-C

NM_000527.4(LDLR):c.121_179del;(p.S41Gfs*69)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 119_1207del
PubMed Link: 31102204
Variant Present in the following documents:
  • Main text
  • 12325_2019_Article_985.pdf
View BVdb publication page