Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.V398fs
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PALB2

NM_024675.4:p.V398fs

Associated Papers

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Melo M et al.

International Journal of Molecular Sciences, 2025

40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Rofes P et al.

Genome Medicine, 2025

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
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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."