Varaico: Literature-Extracted Genetic Variants

Gene:RABEP1
Variant:p.M585I
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RABEP1

NM_001291581.2:p.M585I

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.

Lee NY et al.

Human Genomics, 2022

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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