Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V4V
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ATM

NM_000051.4:p.V4V

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S3_exon_skipping.xlsx › 3__skip

A pan-cancer analysis of synonymous mutations.

Sharma Y et al.

Nature Communications, 2019

31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN et al.

American Journal of Human Genetics, 1999

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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."