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Search results for keyword '18155911':
- annotated PLOD mutations (1)
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- LH1 TRP446GLY (PLOD1 1336T>G) - View
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- registered publications (1)
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- Yis, U., E. Dirik, C. Chambaz, B. Steinmann and C. Giunta (2008). "Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)." Neuromuscul Disord 18(3): 210-214 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "18155911".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-203 Lysyl Hydroxylase 1 (human) LH1 TRP446GLY
(PLOD1 1336T>G)		 Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa)
Conflicting interpretations of pathogenicity		 NA Walker et al., 2005Yis et al., 2008
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