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    • Guidelines & consensus (WG11)
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Home > Our Research Activities > List Of Publications > Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
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