Varaico: Literature-Extracted Genetic Variants

Gene:OXTR
Variant:p.R376G
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OXTR

NM_000916.4:p.R376G

Associated Papers

Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism.

van der Westhuizen ET

British Journal of Pharmacology, 2024

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.

Ohashi K et al.

Journal of Autism and Developmental Disorders, 2021

Naturally Occurring Genetic Variants in the Oxytocin Receptor Alter Receptor Signaling Profiles.

Malik M et al.

Acs Pharmacology & Translational Science, 2021

Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population.

Egawa J et al.

Psychiatry and Clinical Neurosciences, 2015

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.

Liu X et al.

Human Genome Variation, 2015

Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese population and functional analysis.

Ma WJ et al.

Molecular Autism, 2013

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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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."