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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DALRD3

Variant:p.R517C

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DALRD3

NM_001009996.3:p.R517C

hg38:chr3:49015671 G>A

Associated Papers

Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification.

Zhang K et al.

Hgg Advances, 2025

39482881 (PubMed )

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