Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.R1742Q
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RELN

NM_005045.4:p.R1742Q

Associated Papers

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Guijarro F et al.

Blood Advances, 2023

37450374 (PubMed )
Supplement: BLOODA_ADV-2023-009742-mmc2.xlsx › 20220406_291_germline_paired_gn

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights.

Scala M et al.

Frontiers in Genetics, 2022

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.

Lammert DB et al.

Journal of Neurochemistry, 2017

RELN Mutations in Autism Spectrum Disorder.

Lammert DB et al.

Frontiers in Cellular Neuroscience, 2016

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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."