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Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors
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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific disease phenotype
Explore mutations supported or not supported by publications registered in PubMed

Search results for keyword '31472299':
- annotated PLOD mutations (1)
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- LH2a GLY266VAL (LH2a) - GLY266VAL (LH2b) (PLOD2 c.797G>T) - View
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- registered publications (1)
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- Mumm, S., Gottesman, G. S., Wenkert, D., Campeau, P. M., Nenninger, A., Huskey, M., Bijanki, V. N., Veis, D. J., Barnes, A. M., Marini, J. C., Stolina, M., Zhang, F., Mcalister, W. H., Whyte, M. P. (2019). "Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous plod2 mutation." Bone, 115047. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "31472299".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-955 Lysyl Hydroxylase 2a/2b (human) LH2a GLY266VAL (LH2a) - GLY266VAL (LH2b)
(PLOD2 c.797G>T)		 Bruck Syndrome (Type II)
Pathogenic		 NA Mumm et al., 2019 View

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