Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2670_V2671Splc
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ATM

NM_000051.4:p.K2670_V2671Splc

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
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