Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.C392_G396del0

Back to variants list

LDLR

NM_000527.5:p.C392_G396del0

hg38:chr19:11111627 TGCAAGGCTGTGG>T

Associated Papers

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

Rabacchi C et al.

Journal of Clinical Lipidology, 0

27578127 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."