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Year | Number of Results |
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2018 | 1 |
2020 | 1 |
2024 | 0 |
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Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355.
Int J Mol Sci. 2020.
PMID: 32883051
Free PMC article.
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.
Matos L, Duarte AJ, Ribeiro D, Chaves J, Amaral O, Alves S.
Matos L, et al.
Genes (Basel). 2018 Sep 11;9(9):455. doi: 10.3390/genes9090455.
Genes (Basel). 2018.
PMID: 30208654
Free PMC article.
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