Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H2038Y
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ATM

NM_000051.4:p.H2038Y

Associated Papers

Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.

Gu J et al.

Nature Biotechnology, 2025

39375448 (PubMed )
Supplement: 41587_2024_2386_MOESM1_ESM.pdf

CRISPRmap: Sequencing-free optical pooled screens mapping multi-omic phenotypes in cells and tissue.

Gu J et al.

Biorxiv : the Preprint Server for Biology, 2023

38234835 (PubMed )
Supplement: media-5.xlsx › ClinVar_update_Dec2023

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.

Drögemüller M et al.

Plos One, 2014

25295861 (PubMed )
Supplement: pone.0110125.s002.docx
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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."