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        "title": "A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.",
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        "authors": "Ozaki Kokoro, Doi Hiroshi, Mitsui Jun, Sato Nozomu, Iikuni Yoichiro, Majima Takamasa, Yamane Kiyomi, Irioka Takashi, Ishiura Hiroyuki, Doi Koichiro, Morishita Shinichi, Higashi Miwa, Sekiguchi Teruhiko, Koyama Kazuo, Ueda Naohisa, Miura Yoshiharu, Miyatake Satoko, Matsumoto Naomichi, Yokota Takanori, Tanaka Fumiaki, Tsuji Shoji, Mizusawa Hidehiro, Ishikawa Kinya",
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        "title": "Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.",
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        "date": "2024-01-10",
        "authors": "Lo Emma, Blair Justin, Yamamoto Nobuko, Diaz-Miranda Maria Alejandra, Bedoukian Emma, Gray Christopher, Lawrence Audrey, Dedhia Kavita, Elden Lisa M, Germiller John A, Kazahaya Ken, Sobol Steven E, Luo Minjie, Krantz Ian D, Hartman Tiffiney R",
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