Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.R498Q
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SETBP1

NM_015559.3:p.R498Q

Associated Papers

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Wong MMK et al.

Nature Communications, 2025

41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM6_ESM.xlsx › Sheet1

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

Sheth F et al.

Bmc Neurology, 2023

37543562 (PubMed )
Supplement: 12883_2023_3341_MOESM3_ESM.xlsx › Supplementary_Table_Genotype

Detection of Crizotinib-Sensitive Lung Adenocarcinomas With MET, ALK, and ROS1 Genomic Alterations via Comprehensive Genomic Profiling.

Le X et al.

Clinical Lung Cancer, 2015

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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."