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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Query Trace: Atrophy and EXOSC3[original query]
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Orphanet journal of rare diseases 2014 9 (1): 23.
Eggens Veerle Rc, Barth Peter G, Niermeijer Jikke-Mien F, Berg Jonathan N, Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D, Makrythanasis Periklis, Máté Adrienn, Nicoll James A R, O'Rourke Declan, Price Sue, Williams Andrew N, Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B, van Meegen Mia T, van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A, Poll-Thé Bwee Tien, Baas Fra
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