Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.S135delFs
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CRTAP

NM_006371.5:p.S135delFs

Associated Papers

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes.

Elhady G et al.

Clinical Genetics, 2025

PPIB mutations cause severe osteogenesis imperfecta.

van Dijk FS et al.

American Journal of Human Genetics, 2009

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

van Dijk FS et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."