LDLR c.550_551delinsCT ;(p.C184L)

Variant ID: 19-11216132-TG-CT

NM_000527.4(LDLR):c.550_551delinsCT;(p.C184L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The curation of genetic variants: difficulties and possible solutions.

Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12

Variant appearance in text: LDLR: C184L
PubMed Link: 23317699
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page