Varaico: Literature-Extracted Genetic Variants

Gene:SETD1B
Variant:p.W29*
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SETD1B

NM_001353345.2:p.W29*

Associated Papers

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Rivas-Delgado A et al.

Diagnostics (basel, Switzerland), 2022

35885481 (PubMed )
Supplement: diagnostics-12-01575-s001.zip › Supp_Files › diagnostics-1749759_Supp_Tables_R1.xlsx › Table_S2

SETD1B-associated neurodevelopmental disorder.

Roston A et al.

Journal of Medical Genetics, 2021

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K et al.

Journal of Human Genetics, 2019

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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."