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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.V2856fs

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ATM

NM_000051.4:p.V2856fs

hg38:chr11:108345890 GTA>N

Associated Papers

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.

Llinares-Burguet I et al.

International Journal of Molecular Sciences, 2026

41596415 (PubMed )

Supplement: ijms-27-00765-s001.zip › Supplementary_Table_S1_Transcript_Annotation_HGVS.pdf

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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."