Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.D94N
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BCORL1

NM_001379451.1:p.D94N

Associated Papers

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc12.xlsx › Sheet1

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Ivosidenib, an IDH1 inhibitor, in a patient with recurrent, IDH1-mutant glioblastoma: a case report from a Phase I study.

Tejera D et al.

Cns Oncology, 2020

BCOR and BCORL1 mutations in pediatric acute myeloid leukemia.

de Rooij JD et al.

Haematologica, 2015

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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."