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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 '15854030':
- annotated PLOD mutations (1)
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- LH1 TRP446GLY (PLOD1 1336T>G) - View
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- registered publications (1)
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- Walker, L. C., M. A. Overstreet, A. Siddiqui, A. De Paepe, G. Ceylaner, F. Malfait, S. Symoens, P. Atsawasuwan, M. Yamauchi, S. Ceylaner, R. A. Bank and H. N. Yeowell (2005). "A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient." J Invest Dermatol 124(5): 914-918 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "15854030".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-203 Lysyl Hydroxylase 1 (human) LH1 TRP446GLY
(PLOD1 1336T>G)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Conflicting interpretations of pathogenicity		 NA Walker et al., 2005Yis et al., 2008
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