Two Novel Variants in PI4KA in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report.
Jevin M ParmarElyshia L McNamaraPhillipa J LamontKishore Raj KumarAudrey RickMarion StollPak Leng CheongGianina RavenscroftPublished in: Neurology. Genetics (2024)
variants and contribute new likely pathogenic variants for testing in patients with otherwise unsolved hereditary spastic paraparesis.