Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.G1028_W1038delFs
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PALB2

NM_024675.4:p.G1028_W1038delFs

Associated Papers

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Valenzuela-Palomo A et al.

The Journal of Pathology, 2022

34846068 (PubMed )
Supplement: PATH-256-321-s001.zip › path5839-sup-TablesS1-S11.docx

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R et al.

Jama Network Open, 2019

31642931 (PubMed )
Supplement: jamanetwopen-2-e1913900-s001.pdf

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

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Teo ZL et al.

Breast Cancer Research : Bcr, 2013

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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."