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Search results for keyword '25238597':
- annotated PLOD mutations (1)
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- LH2b TYR542THRFS (PLOD2 c.1624delT) - View
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- registered publications (1)
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- Zhou, P., Y. Liu, F. Lv, M. Nie, Y. Jiang, O. Wang, W. Xia, X. Xing and M. Li (2014). "Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients." PLoS One 9(9): e107594. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "25238597".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD6-332 Lysyl Hydroxylase 2b (human) LH2b TYR542THRFS
(PLOD2 c.1624delT)		 Bruck Syndrome (Type II)
Pathogenic		 NA Zhou et al., 2014 View
SiMPLOD6-334 Lysyl Hydroxylase 2b (human) LH2b VAL627ALA
(PLOD2 c.1880T>C)		 Bruck Syndrome (Type II)
Pathogenic		 NA Zhou et al., 2014
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