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Search results for keyword '9481655':
- annotated PLOD mutations (1)
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- LH2a THR608ILE (LH2a) - THR629ILE (LH2b) (PLOD2 c.1823C>T) - ClinVar - View
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- registered publications (1)
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- Breslau-Siderius, E. J., R. H. Engelbert, G. Pals and J. A. van der Sluijs (1998). "Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures." J Pediatr Orthop B 7(1): 35-38. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9481655".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-253 Lysyl Hydroxylase 2a/2b (human) LH2a THR608ILE (LH2a) - THR629ILE (LH2b)
(PLOD2 c.1823C>T)		 Bruck Syndrome (Type II)
Pathogenic		 7641 van der Slot et al., 2003Hyry et al., 2009
Puig-Hervas et al., 2012
Leal et al., 2018
Breslau-Siderius et al., 1998
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