Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHO1
Variant:p.K42_N43delFs
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PLEKHO1

NM_016274.6:p.K42_N43delFs

Associated Papers

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S4_final

Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.

Cai J et al.

Signal Transduction and Targeted Therapy, 2024

39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › sIP

Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Rong AJ et al.

Translational Vision Science & Technology, 2021

34043754 (PubMed )
Supplement: tvst-10-6-34_s001.xlsx › 50_tum_norm_mutect.vcf.anno.hg3

Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Zheng B et al.

Frontiers in Molecular Biosciences, 2021

34336928 (PubMed )
Supplement: Table2.xlsx › Sheet1
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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."