Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V549M
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PMS2

NM_000535.7:p.V549M

Associated Papers

Molecular and Clinicopathological Profiling of Clear Cell Renal Cell Carcinoma with Rhabdoid Features: An Integrative Pathway-Based Stratification Approach.

Lu Z et al.

Cancers, 2025

40940841 (PubMed )
Supplement: cancers-17-02744-s001.zip › cancers-3808688-supplementary.xlsx › S1_NGS_data

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
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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."