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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Query Trace: Microcephaly and ITPR1[original query]
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
PloS one 2017 8 12 (8): e0181791.
Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh
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