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A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia
Autores principales: | Schöggl, Johanna, Siegert, Sandy, Boltshauser, Eugen, Freilinger, Michael, Schmidt, Wolfgang M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544690/ https://www.ncbi.nlm.nih.gov/pubmed/35560436 http://dx.doi.org/10.1002/mds.29054 |
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