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publicationName European journal of human genetics : EJHG
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bibliographicCitation Klar J, Ali Z, Farooq M, Khan K, Wikström J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. European Journal of Human Genetics. 2017 May 10;25(7):848–53. doi: 10.1038/ejhg.2017.54.
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date 2017-05-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1038/ejhg.2017.54
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title A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
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