Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
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Authors
Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR.
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Venue / Journal
Am J Med Genet A
Additional Journal Information
176(12):2768-2776