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Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors
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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific disease phenotype
Explore mutations supported or not supported by publications registered in PubMed

Search results for keyword '10729709':
- 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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- Pousi, B., J. Heikkinen, J. Schroter, M. Pope and R. Myllyla (2000). "A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI." Mutat Res 432(1-2): 33-37 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "10729709".
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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