Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.G323W
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SERPINH1

NM_001235.5:p.G323W

Associated Papers

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Nadyrshina D et al.

Genes, 2022

Mutational hotspots of HSP47 and its potential role in cancer and bone-disorders.

Parveen A et al.

Genomics, 2020

[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta].

Nadyrshina DD et al.

Genetika, 2012

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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."