Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.K408Splc
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P3H1

NM_022356.4:p.K408Splc

Associated Papers

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.

Zhytnik L et al.

Genes, 2022

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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."