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Search results for keyword '18834968':
- annotated PLOD mutations (1)
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- LH3 ASN223SER (PLOD3 c.668A>G) - ClinVar - View
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- registered publications (1)
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- Salo, A. M., H. Cox, P. Farndon, C. Moss, H. Grindulis, M. Risteli, S. P. Robins and R. Myllyla (2008). "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene." Am J Hum Genet 83(4): 495-503 - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "18834968".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-259 Lysyl Hydroxylase 3 (human) LH3 ASN223SER
(PLOD3 c.668A>G)		 Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta)
Pathogenic		 6643 Salo et al., 2008Scietti et al., 2018
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SiMPLOD3-260 Lysyl Hydroxylase 3 (human) LH3 CYS691ALAFS
(PLOD3 c.2071del)		 Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta)
Pathogenic		 6644 Salo et al., 2008
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