Whole exome sequencing of a novel homozygous missense variant in <i>PALB2</i> gene leading to Fanconi anaemia complementation group-Reference-Cited by-同舟云学术

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Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group

Published:2024-02-26 Issue:4 Volume:20 Page:
ISSN:2049-9434
Container-title:Biomedical Reports
language:
Short-container-title:Biomed Rep

Author:

Abdulkareem Angham Abdulrhman¹,Shirah Bader²,Bagabir Hala³,Haque Absarul⁴,Naseer Muhammad¹

Affiliation:

1. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia

2. Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Jeddah 11211, Saudi Arabia

3. Department of Physiology, Faculty of Medicine, King Abdulaziz University, Rabigh 25732, Saudi Arabia

4. King Fahd Medical Research Centre, King Abdulaziz University, Jeddah 21589, Saudi Arabia

Publisher

Spandidos Publications

Reference41 articles.

1. PALB2: The hub of a network of tumor suppressors involved in DNA damage responses;Park;Biochim Biophys Acta,2014

2. PALB2 connects BRCA1 and BRCA2 in the G2/M checkpoint response;Simhadri;Oncogene,2019

3. PALB2 (partner and localizer of BRCA2);Hanenberg;Atlas Genet Cytogenet Oncol Haematol,2018

4. Gene of the month: PALB2;Hamdan;J Clin Pathol,2023

5. Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel;AlHarbi;Oncotarget,2023

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