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Rare<i>PANK2</i>Variants and Pantothenate Kinase-Associated Neurodegeneration in the Dominican Republic

2025-02-20

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, autosomal recessive neurological disorder characterized by the progressive degeneration of specific regions in the brain and is invariably fatal. Several individuals in families affected by PKAN were known to live in an isolated region in a southwestern province of the Dominican Republic and had been previously studied. Forty-six individuals with P...

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Identifiers and source

Literature Corpus work
69a66484-1fff-508a-9a1f-24a30bd715cd
DOI
10.1101/2025.02.14.25321662
Open publication

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Rare<i>PANK2</i>Variants and Pantothenate Kinase-Associated Neurodegeneration in the Dominican RepublicDOI 10.1101/2025.02.14.25321662
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