Varaico: Literature-Extracted Genetic Variants

Gene:PTPN23
Variant:p.H1351R
Back to variants list

PTPN23

NM_015466.4:p.H1351R

Associated Papers

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST3

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

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."