Varaico: Literature-Extracted Genetic Variants

Gene:PAPPA2
Variant:p.R269Q
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PAPPA2

NM_020318.3:p.R269Q

Associated Papers

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Counteracting lineage-specific transcription factor network finely tunes lung adeno-to-squamous transdifferentiation through remodeling tumor immune microenvironment.

Tang S et al.

National Science Review, 2023

37051524 (PubMed )
Supplement: nwad028_supplemental_files.zip › Table_S2.xlsx › Mutations_in_93_WGS_samples

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bae S et al.

Bmc Medical Genomics, 2021

34930245 (PubMed )
Supplement: 12920_2021_1148_MOESM1_ESM.xlsx › __1

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed
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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."