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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease classic galactosemia
Comorbidity C0013720|ehlers-danlos syndrome
Sentences 1
PubMedID- 25331875 Inactivating mutations in the galt-ii gene (b3galt6) associated with ehlers-danlos syndrome cause proteoglycan maturation defects similar to fam20b deletion.

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