Chorea-acanthocytosis presenting with epilepsy at onset harboring novel compound heterozygous VPS13A mutations
Mitsuyoshi Tamura, Shogo Furukawa, Masahiro Namiki, Yukiko Ozawa, Yuka Urata, Masayuki Nakamura, Mitsuru Watanabe, Hideki Oshima, Toshiki Obuchi, Tadashi Ichikawa, Yuriko Kikkawa
Abstract
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsBlood groups and transfusion · Neurological and metabolic disorders · Genetic Syndromes and Imprinting