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

Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl

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23 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology