Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.R438C
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ANTXR1

NM_032208.3:p.R438C

Associated Papers

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

Modafferi C et al.

Journal of Medical Genetics, 2025

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.

Letra A

Current Osteoporosis Reports, 2022

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Hamdan N et al.

Clinical Genetics, 2020

Recurrent Neoantigens in Colorectal Cancer as Potential Immunotherapy Targets.

Chen C et al.

Biomed Research International, 2020

32733937 (PubMed )
Supplement: 2861240.f1.zip › Table_S3.xlsx › Table_S3

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

Dinckan N et al.

American Journal of Medical Genetics. Part A, 2018

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST10

Microsatellite instability: an update.

Yamamoto H et al.

Archives of Toxicology, 2015

Identification of 33 candidate oncogenes by screening for base-specific mutations.

Tuupanen S et al.

British Journal of Cancer, 2014

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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."