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pro vyhledávání: '"Harrison L. Love, MSIV"'
Publikováno v:
Radiology Case Reports, Vol 16, Iss 6, Pp 1276-1279 (2021)
Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability. We present a case of a pathogenic variant (c.4046G>A, p.R1349Q) in the CACNA1A
Externí odkaz:
https://doaj.org/article/974e4c9e3e704af2810e10fc50db3f15
