Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.A186A
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CRTAP

NM_006371.5:p.A186A

Associated Papers

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Costantini A et al.

American Journal of Medical Genetics. Part A, 2017

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.

Barbirato C et al.

Genetics and Molecular Research : Gmr, 2015

Osteogenesis imperfecta in Brazilian patients.

Trancozo M et al.

Genetics and Molecular Biology, 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."