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Search results for keyword '19320026':
- annotated PLOD mutations (1)
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- LH1 ASP367PROFS (PLOD1 c.1120_1756-1553del) - View
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- registered publications (1)
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- Giunta, C., C. Burer-Chambaz and B. Steinmann (2009). "Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type." Hum Genet 125(3): 346 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "19320026".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-321 Lysyl Hydroxylase 1 (human) LH1 ASP367PROFS
(PLOD1 c.1120_1756-1553del)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 NA Giunta et al., 2009 View

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