Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L107_A118del0
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P3H1

NM_022356.4:p.L107_A118del0

Associated Papers

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Senturk L et al.

Fetal Diagnosis and Therapy, 2024

New genes in bone development: what's new in osteogenesis imperfecta.

Marini JC et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."