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Search results for keyword '12126935':
- annotated PLOD mutations (1)
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- LH1 ARG319END (PLOD1 c.955C>T) - ClinVar - View
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- registered publications (1)
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- Eyre, D., P. Shao, M. A. Weis and B. Steinmann (2002). "The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine." Mol Genet Metab 76(3): 211-216 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "12126935".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-35 Lysyl Hydroxylase 1 (human) LH1 ARG319END
(PLOD1 c.955C>T)		 no disease phenotype information available
Pathogenic		 14364 Hyland et al., 1992Eyre et al., 2002
Giunta et al., 2005
Steinmann et al., 1995
al-Gazali et al., 1997
Royce et al. 1985
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