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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAP4K4

Variant:p.I24_F25delFs

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MAP4K4

NM_001395002.1:p.I24_F25delFs

hg38:chr2:101698485 ATT>A

Associated Papers

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava C et al.

Nature Genetics, 2025

40379786 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."