Varaico: Literature-Extracted Genetic Variants

Gene:PML
Variant:p.R715Q
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PML

NM_033238.3:p.R715Q

Associated Papers

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S2.xlsx › Supplementary_Table_S2.

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

The Cellular and Molecular Landscape of Synchronous Pediatric Sialoblastoma and Hepatoblastoma.

Yang R et al.

Frontiers in Oncology, 2022

35860547 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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