LDLR c.320_322del ;(p.K107del)

Variant ID: 19-11215900-CAAG-C

NM_000527.4(LDLR):c.320_322del;(p.K107del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular Genetics & Genomic Medicine
Wong, Karen H Y KHY; Levy-Sakin, Michal M; Ma, Walfred W; Gonzaludo, Nina N; Mak, Angel C Y ACY; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Grenville, Zoe Z; Wong, Nicolas N; Kane, John P JP; Kwok, Pui-Yan PY; Malloy, Mary J MJ; Pullinger, Clive R CR
Publication Date: 2019-12

Variant appearance in text: LDLR: 320_322del; K107del
PubMed Link: 31617323
Variant Present in the following documents:
  • Main text
  • MGG3-7-e1007.pdf
View BVdb publication page