Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K3
Variant:p.R293H
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MAP2K3

NM_145109.3:p.R293H

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Waldenmaier M et al.

Cancers, 2022

35205822 (PubMed )
Supplement: cancers-14-01074-s001.zip › cancers-1571843_supplementary.pdf

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.

Zhou B et al.

Nucleic Acids Research, 2019

30864654 (PubMed )
Supplement: gkz169_supplemental_files.zip › Table_S5_-_HepG2___COSMIC_Overlap.xlsx › SNPs

Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.

Zhou B et al.

Genome Research, 2019

30737237 (PubMed )
Supplement: supp_gr.234948.118_Supplemental_Table_S6.xlsx › SNVs

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Zeltner N et al.

Nature Medicine, 2016

27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
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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."