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Beyond DNA sequencing: genetic kidney disorders related to altered splicing.
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- Nephrology Dialysis Transplantation, 2024, v. 39, n. 7, p. 1056, doi. 10.1093/ndt/gfae022
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- Article
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
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- Cerebellum, 2019, v. 18, n. 4, p. 781, doi. 10.1007/s12311-019-01038-0
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- Article