Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
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Authors
Satoko Miyatake
Satoko Miyatake•Hiroshi Doi•Naomichi Matsumoto
Published
May 30, 2024
Abstract
Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of
