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Search results for keyword '12475640':
- annotated PLOD mutations (1)
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- LH3 PHE143LEU - View
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- registered publications (1)
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- Wang, C., H. Luosujarvi, J. Heikkinen, M. Risteli, L. Uitto and R. Myllyla (2002). "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro." Matrix Biol 21(7): 559-566 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "12475640".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-264 Lysyl Hydroxylase 3 (human) LH3 PHE143LEU
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002 View
SiMPLOD3-265 Lysyl Hydroxylase 3 (human) LH3 CYS144ILE
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
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