A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

Klar J, Ali Z, Farooq M, Khan K, Wikström J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N

Eur J Hum Genet 25 (7) 848-853 [2017-06-00; online 2017-05-10]

Bioinformatics Compute and Storage [Service]

NGI Uppsala (Uppsala Genome Center) [Service]

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PubMed 28488678

DOI 10.1038/ejhg.2017.54

Crossref 10.1038/ejhg.2017.54