Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L822_A823Splc
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ATM

NM_000051.4:p.L822_A823Splc

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_S2_css.xlsx › DBASS3_index

Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.

Austen B et al.

Blood, 2005

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

Campbell C et al.

Human Mutation, 2003

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

Teraoka SN et al.

American Journal of Human Genetics, 1999

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Telatar M et al.

American Journal of Human Genetics, 1998

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar M et al.

American Journal of Human Genetics, 1996

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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."