Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S689L
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PALB2

NM_024675.4:p.S689L

Associated Papers

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

George SHL et al.

Jama Network Open, 2021

33646313 (PubMed )
Supplement: jamanetwopen-e210307-s001.pdf

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
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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."