A case study demonstrates that an ITPR1 variant is linked to type 29 spinocerebellar ataxia.

Published Date: 28 Jan 2024

A heterozygous missense mutation in the ITPR1 gene was found in a recent case study during clinical exome sequencing. Patients with this mutation displayed both spinocerebellar ataxia-like syndrome and craniofacial abnormalities.

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