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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 '25277362':
- annotated PLOD mutations (1)
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- LH1 GLN208END (PLOD1 c.622C>T) - ClinVar - View
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- registered publications (1)
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- Abdalla, E. M., M. Rohrbach, C. Burer, M. Kraenzlin, H. El-Tayeby, M. F. Elbelbesy, A. Nabil and C. Giunta (2015). "Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype." Eur J Pediatr 174(1): 105-112 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "25277362".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-330 Lysyl Hydroxylase 1 (human) LH1 TYR675END
(PLOD1 c.2025C>G)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Abdalla et al., 2015 View
SiMPLOD1-318 Lysyl Hydroxylase 1 (human) LH1 GLN208END
(PLOD1 c.622C>T)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Uncertain significance		 631562 Abdalla et al., 2015
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