Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.R178Q
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LRP5

NM_002335.4:p.R178Q

Associated Papers

More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.

Caetano da Silva C et al.

Molecular Genetics & Genomic Medicine, 2021

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E et al.

American Journal of Human Genetics, 2019

30905399 (PubMed )
Supplement: mmc1.pdf
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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."