Varaico: Literature-Extracted Genetic Variants

Gene:VLDLR
Variant:p.R634H
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VLDLR

NM_003383.5:p.R634H

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Teles E Silva AL et al.

Translational Psychiatry, 2022

Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.

Cunha MLR et al.

Plos One, 2017

29117201 (PubMed )
Supplement: pone.0187699.s002.xlsx › SNPs_result_filter_strategies

Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Silver AJ et al.

Genetic Testing and Molecular Biomarkers, 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."