Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.H125Y
Back to variants list

LDLRAP1

NM_015627.3:p.H125Y

Associated Papers

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy.

Tanaka T et al.

Cancers, 2023

37627046 (PubMed )
Supplement: cancers-15-04018-s001.zip › cancers-2555619-supplementary_tables.xlsx › Table_S1

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

D'Erasmo L et al.

Orphanet Journal of Rare Diseases, 2021

34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

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."