Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.K308R
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P4HB

NM_000918.4:p.K308R

Associated Papers

Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge.

Ryhänen EM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

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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."