Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.Q134*
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LDLRAP1

NM_015627.3:p.Q134*

Associated Papers

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.

Nikasa P et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Ramensky VE et al.

Frontiers in Genetics, 2021

34691145 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_3
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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."