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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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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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