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Search results for keyword '29177700':
- annotated PLOD mutations (1)
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- LH2a ARG380CYS (LH2a) - ARG380CYS (LH2b) (PLOD2 c.1138C>T) - View
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- registered publications (1)
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- Lv, F., X. Xu, Y. Song, L. Li, Asan, J. Wang, H. Yang, O. Wang, Y. Jiang, W. Xia, X. Xing and M. Li (2018). "Novel Mutations in PLOD2 Cause Rare Bruck Syndrome." Calcif Tissue Int 102(3): 296-309 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "29177700".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-228 Lysyl Hydroxylase 2a/2b (human) LH2a ARG380CYS (LH2a) - ARG380CYS (LH2b)
(PLOD2 c.1138C>T)		 Bruck Syndrome (Type II)
Pathogenic		 NA Lv et al., 2018 View
SiMPLOD2-236 Lysyl Hydroxylase 2a/2b (human) LH2a CYS385ARG (LH2a) - CYS385ARG (LH2b)
(PLOD2 c.1153T>C)		 Bruck Syndrome (Type II)
Pathogenic		 NA Lv et al., 2018
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SiMPLOD2-242 Lysyl Hydroxylase 2a/2b (human) LH2a GLY640ASP (LH2a) - GLY661ASP (LH2b)
(PLOD2 c.1919G>A)		 Bruck Syndrome (Type II)
Pathogenic		 NA Lv et al., 2018
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SiMPLOD2-230 Lysyl Hydroxylase 2a/2b (human) LH2a ARG659END (LH2a) - ARG680END (LH2b)
(PLOD2 c.1975C>T)		 Cleft of soft palate
Pathogenic/Likely pathogenic		 374012 Lv et al., 2018
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