five

MOESM6 of Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

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Figshare2019-10-27 更新2026-04-29 收录
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https://figshare.com/articles/dataset/MOESM6_of_Recurrent_NUS1_canonical_splice_donor_site_mutation_in_two_unrelated_individuals_with_epilepsy_myoclonus_ataxia_and_scoliosis_-_a_case_report/10058981
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Additional file 6: Table S2. Detailed information for the five de novo variants found in patient 1, including in silico prediction scores and allele frequencies.
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2019-10-27
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