Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.L337L
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SERPINH1

NM_001235.5:p.L337L

Associated Papers

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.

Junkiert-Czarnecka A et al.

Postepy Dermatologii I Alergologii, 2023

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.

Barbirato C et al.

Genetics and Molecular Research : Gmr, 2016

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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."