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Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.
JIMD Rep. 2019;44:17-21. doi: 10.1007/8904_2018_117. Epub 2018 Jun 20.
JIMD Rep. 2019.
PMID: 29923088
Free PMC article.
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Davidson JE, Russell JS, Martinez NN, Mowat DR, Jones KJ, Kirk EP, Kariyawasam D, Farrar M, D'Silva A.
Davidson JE, et al. Among authors: martinez nn.
Genes (Basel). 2023 Jul 6;14(7):1403. doi: 10.3390/genes14071403.
Genes (Basel). 2023.
PMID: 37510307
Free PMC article.
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