Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.G171_E172del0
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LRP5

NM_002335.4:p.G171_E172del0

Associated Papers

Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.

Zhao D et al.

Molecular Genetics and Genomics : Mgg, 2023

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.

Whyte MP et al.

Jbmr Plus, 2023

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S10_LRP5_variant

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.

Pangrazio A et al.

Bone, 2011

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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."