Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.R564C
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COL1A1

NM_000088.4:p.R564C

Associated Papers

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.

Rauch F et al.

Journal of Bone and Mineral Metabolism, 2019

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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."