Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.V473A
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P3H1

NM_022356.4:p.V473A

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

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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."