Publications:

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Brain : A Journal Of Neurology

Rydning, Siri L SL; Koht, Jeanette J; Sheng, Ying Y; Sowa, Piotr P; Hjorthaug, Hanne S HS; Wedding, Iselin M IM; Erichsen, Anne Kjersti AK; Hovden, Inger Anette IA; Backe, Paul H PH; Tallaksen, Chantal M E CME; Vigeland, Magnus D MD; Selmer, Kaja K KK

Publication Date: 2019-04-01

Variant appearance in text: F8: 1378_1380del

PubMed Link: 30847471

Variant Present in the following documents:

• Main text

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