Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.L347F
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CRTAP

NM_006371.5:p.L347F

Associated Papers

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Michou L et al.

Joint Bone Spine, 2025

On the association between Chiari malformation type 1, bone mineral density and bone related genes.

Martínez-Gil N et al.

Bone Reports, 2022

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Mikhael S et al.

Human Genetics, 2021

Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.

Caudevilla Lafuente P et al.

Medicina Clinica, 2019

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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."