Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.A5V
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P3H1

NM_022356.4:p.A5V

Associated Papers

Genetic causes and mechanisms of Osteogenesis Imperfecta.

Lim J et al.

Bone, 2017

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA et al.

Molecular Genetics & Genomic Medicine, 2017

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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."