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Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the <i>CCDC88C</i> Gene by Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár, Péter Klivényi, Márta Széll, Éva Ádám
Published 2023-01-01
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Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease by Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell
Published 2024-01-01
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