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Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

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0 Published in 2020 at "Journal of Medical Genetics"

DOI: 10.1136/jmedgenet-2020-107007

Abstract: Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy type 2… read more here.

Keywords: heterozygous kif1a; spectrum; variants underlie; underlie wide ... See more keywords