Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.L997V
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RELN

NM_005045.4:p.L997V

Associated Papers

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

The RELN heterozygous single-nucleotide polymorphism rs362691 increases the prefrontal cortical thickness and modulates systemizing-related autistic tendencies in typically developing children and adolescents.

Sato H et al.

Frontiers in Neuroscience, 2025

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Lopera F et al.

Nature Medicine, 2023

37188781 (PubMed )
Supplement: 41591_2023_2318_MOESM1_ESM.pdf

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Di Donato N et al.

Brain : a Journal of Neurology, 2022

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Dhaliwal J et al.

Genes, 2021

Association of Allelic Variants of the Reelin Gene with Autistic Spectrum Disorder: A Systematic Review and Meta-Analysis of Candidate Gene Association Studies.

Hernández-García I et al.

International Journal of Environmental Research and Public Health, 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5o

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

RELN rare variants in myoclonus-dystonia.

Groen JL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Genetic analysis of reelin gene (RELN) SNPs: no association with autism spectrum disorder in the Indian population.

Dutta S et al.

Neuroscience Letters, 2008

Association of Reelin gene polymorphisms with autism.

Serajee FJ et al.

Genomics, 2006

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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."