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Search results for keyword '30463024':
- annotated PLOD mutations (1)
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- LH3 LEU627PRO (PLOD3 c.1880T>C) - View
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- registered publications (1)
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- Vahidnezhad, H., L. Youssefian, et al. (2018). "Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency." Matrix Biol. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "30463024".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-1147 Lysyl Hydroxylase 3 (human) LH3 LEU627PRO
(PLOD3 c.1880T>C)		 Epidermolysis Bullosa
Pathogenic		 NA Vahidnezhad et al., 2018 View

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