Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1478*
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ATM

NM_000051.4:p.Q1478*

Associated Papers

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM3_ESM.pdf

Exome-based search for recurrent disease-causing alleles in Russian population.

Yanus GA et al.

European Journal of Medical Genetics, 2019

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

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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."