Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
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DOI: 10.3390/biomedicines10071546
Abstract: Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs.… read more here.
Keywords: genetic analyses; diagnosis; comprehensive genetic; early diagnosis ... See more keywords