MOESM6 of Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
Den, Kouhei;Kudo, Yosuke;Kato, Mitsuhiro;Watanabe, Kosuke;Doi, Hiroshi;Tanaka, Fumiaki;Oguni, Hirokazu;Miyatake, Satoko;Mizuguchi, Takeshi;Takata, Atsushi;Miyake, Noriko;Mitsuhashi, Satomi;Naomichi Matsumoto
Description
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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Metrics Over Time
Publication Details
DOI
Publisher
figshare
Subfield
Rheumatology
Field
Medicine
Domain
Health Sciences
Confidence Score
88%
Source
Open Alex
Keywords
Space ScienceMedicineGeneticsFOS: Biological sciences69999 Biological Sciences not elsewhere classified19999 Mathematical Sciences not elsewhere classifiedFOS: Mathematics110309 Infectious DiseasesFOS: Health sciencesComputational Biology