Varaico: Literature-Extracted Genetic Variants

Gene:ASXL2
Variant:p.Q547R
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ASXL2

NM_018263.6:p.Q547R

Associated Papers

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.

Tyran M et al.

Cancers, 2019

31086113 (PubMed )
Supplement: cancers-11-00665-s001.zip › Supplementary › Table_S3.xlsx › Suppl_table_3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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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."