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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYRK1A

Variant:p.V204delFs

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DYRK1A

NM_001396.5:p.V204delFs

hg38:chr21:37486560 GT>G

Associated Papers

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.

Le May N et al.

Frontiers in Neuroscience, 2025

40206408 (PubMed )

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