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đź“ŁNew from @rdexeter.bsky.social đź“„Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
www.cell.com
Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microa...
6mo
The American Journal of Human Genetics
