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Search results for keyword '28116328':
- annotated PLOD mutations (1)
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- LH2b (PLOD2 c.1828T>C) - View
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- registered publications (1)
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- Caparros-Martin, J. A., M. S. Aglan, S. Temtamy, G. A. Otaify, M. Valencia, J. Nevado, E. Vallespin, A. Del Pozo, C. Prior de Castro, L. Calatrava-Ferreras, P. Gutierrez, A. M. Bueno, B. Sagastizabal, E. Guillen-Navarro, M. Ballesta-Martinez, V. Gonzalez, S. Y. Basaran, R. Buyukoglan, B. Sarikepe, C. Espinoza-Valdez, F. Cammarata-Scalisi, V. Martinez-Glez, K. E. Heath, P. Lapunzina and V. L. Ruiz-Perez (2017). "Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta." Mol Genet Genomic Med 5(1): 28-39. - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "28116328".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD6-333 Lysyl Hydroxylase 2b (human) LH2b TRP610ARG
(PLOD2 c.1828T>C)		 Bruck Syndrome (Type II)
Pathogenic		 NA Caparros-Martin et al., 2016 View

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