Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.R415*
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SERPINH1

NM_001235.5:p.R415*

Associated Papers

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

Nadyrshina D et al.

Genes, 2022

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

23665959 (PubMed )
Supplement: NIHMS483564-supplement-1.pdf

[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."