Varaico: Literature-Extracted Genetic Variants

Gene:PTBP1
Variant:p.C23S
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PTBP1

NM_002819.5:p.C23S

Associated Papers

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Masson A et al.

The Journal of Clinical Investigation, 2025

Capture RIC-seq reveals positional rules of PTBP1-associated RNA loops in splicing regulation.

Ye R et al.

Molecular Cell, 2023

Bioinformatic analyses to select phenotype affecting polymorphisms in HTR2C gene.

Piva F et al.

Human Psychopharmacology, 2011

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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."