Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic_Likely_Pathogenic
Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.
Herms A et al.
Nature Genetics, 2024
39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR et al.
Annals of Neurology, 2024
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.
Jaramillo Oquendo C et al.
Scientific Reports, 2019
31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.
Martínez N et al.
Leukemia, 2014
Select a paper to view details