Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L1142delFs
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PALB2

NM_024675.4:p.L1142delFs

Associated Papers

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

Abdulkareem AA et al.

Biomedical Reports, 2024

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.

Siraj AK et al.

Scientific Reports, 2023

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

Ghazwani Y et al.

Cancer Genetics, 2016

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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."