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Search results for keyword '21527992':
- annotated PLOD mutations (1)
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- LH1 ALA099THR (PLOD1 c.295G>A) - ClinVar - View
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- registered publications (1)
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- Yip, S. P., K. H. Leung, W. Y. Fung, P. W. Ng, P. C. Sham and M. K. Yap (2011). "A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population." Mol Vis 17: 810-821 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "21527992".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-6 Lysyl Hydroxylase 1 (human) LH1 ALA099THR
(PLOD1 c.295G>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Benign		 196247 Yip et al., 2011 View
SiMPLOD1-60 Lysyl Hydroxylase 1 (human) LH1 ASN402ASN
(PLOD1 c.1206C>T)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Benign		 255799 Yip et al., 2011
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SiMPLOD1-61 Lysyl Hydroxylase 1 (human) LH1 ASN402LYS
(PLOD1 c.1206C>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Benign		 NA Yip et al., 2011
 View
SiMPLOD1-157 Lysyl Hydroxylase 1 (human) LH1 PHE098PHE
(PLOD1 c.294C>T)		 Ehlers-Danlos syndrome, cardiovascular phenotype
Benign		 255803 Yip et al., 2011
 View

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