Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.T195M
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PODXL

NM_001018111.3:p.T195M

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

Doğulu N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M et al.

International Journal of Molecular Medicine, 2014

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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."