A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
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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 Support for Computational Resources [Service]
NGI Uppsala (Uppsala Genome Center) [Service]
National Genomics Infrastructure [Service]
PubMed 28488678
DOI 10.1038/ejhg.2017.54
Crossref 10.1038/ejhg.2017.54