Varaico: Literature-Extracted Genetic Variants

Gene:PCBP1
Variant:p.Q184*
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PCBP1

NM_006196.4:p.Q184*

Associated Papers

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Deb W et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.

Lu YW et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Burkhardt B et al.

Nature Communications, 2022

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López C et al.

Nature Communications, 2019

30926794 (PubMed )
Supplement: 41467_2019_8578_MOESM9_ESM.xlsx › Tabelle3__3_

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."