Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.R846Q
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CHD2

NM_001271.4:p.R846Q

Associated Papers

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Wang X et al.

Genes, 2022

35627293 (PubMed )
Supplement: genes-13-00908-s001.zip › Supporting_information_Table_S2.xlsx › Table_S2

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L et al.

Frontiers in Genetics, 2022

35222528 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_S1.xlsx › single-nucleotide_or_indel

Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Luo R et al.

Npj Breast Cancer, 2021

34075047 (PubMed )
Supplement: 41523_2021_278_MOESM2_ESM.xlsx › Supplementary_Data_1

CHD2-related epilepsy: novel mutations and new phenotypes.

Chen J et al.

Developmental Medicine and Child Neurology, 2020

Comparative sequence analysis of patient-matched primary colorectal cancer, metastatic, and recurrent metastatic tumors after adjuvant FOLFOX chemotherapy.

Harada K et al.

Bmc Cancer, 2019

30898102 (PubMed )
Supplement: 12885_2019_5479_MOESM5_ESM.xlsx › Sheet1
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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."