Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.R104Q
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EPHA3

NM_005233.6:p.R104Q

Associated Papers

Rare variants in NRSN2 cause non-syndromic orofacial cleft through dysregulation of TGF-β signaling.

Zheng X et al.

Genes & Diseases, 2026

41624910 (PubMed )
Supplement: mmc2.docx

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Ferrari A et al.

Nature Communications, 2016

27406316 (PubMed )
Supplement: ncomms12222-s3.xlsx › genetab.txt

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

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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."