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A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.

ABSTRACT:

SUBMITTER: Schoggl J 

PROVIDER: S-EPMC9544690 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.

Schöggl Johanna J   Siegert Sandy S   Boltshauser Eugen E   Freilinger Michael M   Schmidt Wolfgang M WM  

Movement disorders : official journal of the Movement Disorder Society 20220512 8

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