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A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Scientific Scholar
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944668/ https://www.ncbi.nlm.nih.gov/pubmed/36891108 http://dx.doi.org/10.25259/JNRP-2022-6-43 |