Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.P24delFs
Back to variants list

PURA

NM_005859.5:p.P24delFs

Associated Papers

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

Dai W et al.

European Journal of Human Genetics : Ejhg, 2023

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.

Rodríguez-García ME et al.

Journal of Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."