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Search results for keyword '17100196':
- annotated PLOD mutations (1)
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- LH1 TYR455THRFS (PLOD1 c.1362delC) - View
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- registered publications (1)
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- Salavoura, K., M. Valari, A. Kolialexi, A. Mavrou and S. Kitsiou (2006). "A case of Ehlers Danlos syndrome type VI." Genet Couns 17(3): 291-294 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "17100196".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-324 Lysyl Hydroxylase 1 (human) LH1 TYR455THRFS
(PLOD1 c.1362delC)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Giunta et al., 2005Salavoura et al., 2006
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