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Search results for keyword '9738467':
- annotated PLOD mutations (1)
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- LH1 ARG715ALA - View
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- registered publications (1)
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- Passoja, K., K. Rautavuoma, L. Ala-Kokko, T. Kosonen and K. I. Kivirikko (1998). "Cloning and characterization of a third human lysyl hydroxylase isoform." Proc Natl Acad Sci U S A 95(18): 10482-10486 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9738467".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-55 Lysyl Hydroxylase 1 (human) LH1 ARG715ALA
(PLOD1)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Passoja et al., 1998 View
SiMPLOD1-56 Lysyl Hydroxylase 1 (human) LH1 ARG718ALA
(PLOD1)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Passoja et al., 1998
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