Varaico: Literature-Extracted Genetic Variants

Gene:GNPAT
Variant:p.R248C
Back to variants list

GNPAT

NM_014236.4:p.R248C

Associated Papers

Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.

Gupta N et al.

Prenatal Diagnosis, 2025

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Erson-Omay EZ et al.

Genome Medicine, 2017

28153049 (PubMed )
Supplement: 13073_2017_401_MOESM3_ESM.xlsx › AllMutations_Clonality
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."