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Search results for keyword '31129566':
- annotated PLOD mutations (1)
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- LH3 PRO270LEU (PLOD3 c.809C>T) - ClinVar - View
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- registered publications (1)
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- Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke S, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. (2019) "Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications." Journal of Medical Genetics, in press - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "31129566".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-1151 Lysyl Hydroxylase 3 (human) LH3 PRO270LEU
(PLOD3 c.809C>T)		 Stickler syndrome type VII (vascular type)
Pathogenic		 623469 Ewans et al, 2019 View

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