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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P3H1

Variant:p.K408Splc

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P3H1

NM_022356.4:p.K408Splc

hg38:chr1:42755137 A>T

Associated Papers

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.

Sait H et al.

Clinical Genetics, 2025

40650436 (PubMed )

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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."