Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.P28ins2
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PODXL

NM_001018111.3:p.P28ins2

Associated Papers

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › HS-Sch-2

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W et al.

Jbmr Plus, 2022

35991532 (PubMed )
Supplement: JBM4-6-e10659-s002.xlsx › Supl4._multiallelic_variants

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
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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."