Varaico: Literature-Extracted Genetic Variants

Gene:STOX1
Variant:p.R941W
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STOX1

NM_152709.5:p.R941W

Associated Papers

Genome-wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas.

Fujikura K et al.

The Journal of Pathology, 2026

41344988 (PubMed )
Supplement: PATH-268-135-s001.xlsx › Table_S3

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

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

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

STOX1 deficiency is associated with renin-mediated gestational hypertension and placental defects.

Parchem JG et al.

Jci Insight, 2021

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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."