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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPF1

Variant:p.T36delFs

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UPF1

NM_002911.4:p.T36delFs

hg38:chr19:18832313 TCA>T

Associated Papers

A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.

Feng X et al.

Neuroscience Bulletin, 2025

40042769 (PubMed )

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