Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.T367fs
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FANCL

NM_018062.4:p.T367fs

Associated Papers

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

McGlacken-Byrne SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_6

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9B

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

Personalized circulating tumor DNA in patients with hepatocellular carcinoma: a pilot study.

Pommergaard HC et al.

Molecular Biology Reports, 2022

A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.

Tuteja S et al.

Journal of Pathology Informatics, 2022

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2).

Swisher EM et al.

Nature Communications, 2021

33941784 (PubMed )
Supplement: 41467_2021_22582_MOESM1_ESM.pdf

Mutations in DNA Repair Genes and Clinical Outcomes of Patients With Metastatic Colorectal Cancer Receiving Oxaliplatin or Irinotecan-containing Regimens.

Marks EI et al.

American Journal of Clinical Oncology, 2021

BET, SRC, and BCL2 family inhibitors are synergistic drug combinations with PARP inhibitors in ovarian cancer.

Lui GYL et al.

Ebiomedicine, 2020

32927276 (PubMed )
Supplement: mmc1.pdf

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Davis AA et al.

Plastic and Reconstructive Surgery. Global Open, 2019

Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.

Aguirre AJ et al.

Cancer Discovery, 2018

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

Maung KZY et al.

Blood Cancer Journal, 2018

29891941 (PubMed )
Supplement: 41408_2018_90_MOESM1_ESM.docx

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-12.xlsx › S_Data_11

Molecular Analysis of Luminal Androgen Receptor Reveals Activated Pathways and Potential Therapeutic Targets in Breast Cancer.

Stella S et al.

Cancer Genomics & Proteomics, 0

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