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1
Q38318365-26BA3D41-BB42-44C7-9427-C32EAFE44BEF
Q38318365-26BA3D41-BB42-44C7-9427-C32EAFE44BEF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38318365-26BA3D41-BB42-44C7-9427-C32EAFE44BEF
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
P2860
Q38318365-26BA3D41-BB42-44C7-9427-C32EAFE44BEF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38318365-26BA3D41-BB42-44C7-9427-C32EAFE44BEF
rank
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type
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Statement
wasDerivedFrom
859f4ee8220b107714b61845f604c7610c35f6fd
P2860
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.