Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.G411S
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SERPINH1

NM_001235.5:p.G411S

Associated Papers

A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability.

Akalın A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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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."