About Contact References Structures Adv. Search Stats Demo

Search Results - Advanced Search Options



Search results for keyword '25238597':
- annotated PLOD mutations (1)
Show

- LH2b TYR542THRFS (PLOD2 c.1624delT) - View
Hide


- registered publications (1)
Show

- 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
Hide



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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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
View

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 1970-01-01 00:00:00
We truly hate messages and disclaimers about cookies and tracking of personal info. But don't worry, we don't use any.