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Search results for keyword '8163671':
- annotated PLOD mutations (1)
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- LH1 GLU532DEL (PLOD1 c.1594_1596del) - ClinVar - View
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- registered publications (1)
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- Ha, V. T., M. K. Marshall, L. J. Elsas, S. R. Pinnell and H. N. Yeowell (1994). "A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene." J Clin Invest 93(4): 1716-1721 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "8163671".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-97 Lysyl Hydroxylase 1 (human) LH1 GLU532DEL
(PLOD1 c.1594_1596del)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Pathogenic		 14367 Ha et al., 1994 View
SiMPLOD1-107 Lysyl Hydroxylase 1 (human) LH1 GLY678ARG
(PLOD1 c.2032G>A)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Conflicting interpretations of pathogenicity		 14366 Ha et al., 1994
Yeowell et al., 2000
Rohrbach et al., 2011
Miller et al., 1979
Dembure et al., 1984
Dembure et al., 1987
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