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Search results for keyword '9220536':
- annotated PLOD mutations (1)
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- LH1 TYR511END (PLOD1 c.1533C>G) - ClinVar - View
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- registered publications (1)
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- Yeowell, H. N. and L. C. Walker (1997). "Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene." Proc Assoc Am Physicians 109(4): 383-396 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "9220536".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-209 Lysyl Hydroxylase 1 (human) LH1 TYR511END
(PLOD1 c.1533C>G)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Pathogenic		 14370 Walker et al., 1999Yeowell et al., 2000
Yeowell et al., 1997
Pousi et al., 2000
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