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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IRF2BPL

Variant:p.N129N

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IRF2BPL

NM_024496.4:p.N129N

hg38:chr14:77027406 G>A

Associated Papers

NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.

Dell'Oca M et al.

Nature Communications, 2026

41760624 (PubMed )

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