Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.T413S
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PALB2

NM_024675.4:p.T413S

Associated Papers

Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.

Tsyganov MM et al.

Genes, 2023

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Lopez-Perolio I et al.

Journal of Medical Genetics, 2019

30890586 (PubMed )
Supplement: jmedgenet-2018-105834supp004.docx

Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Bleuyard JY et al.

Wellcome Open Research, 2017

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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."