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Access this article Similar content being viewed by others Data Availability In this article, we have included all the data after doing experiments and statistical analysis, the source of majority of materials included in material and methods section
doi: 10.3390/antiox8090404 100 KornbergMDSenNHaraMRJuluriKRNguyenJVKSnowmanAMet al
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Conclusions Here, we report a case of a neonate with severe GSSD carrying compound heterozygous variants in GSS , expanding the varietal spectrum
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