Varaico: Literature-Extracted Genetic Variants

Gene:SETD1B
Variant:p.A807V
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SETD1B

NM_001353345.2:p.A807V

Associated Papers

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Weerts MJA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

Hiraide T et al.

Epilepsia Open, 2019

Neoantigens Derived from Recurrently Mutated Genes as Potential Immunotherapy Targets for Gastric Cancer.

Zhou J et al.

Biomed Research International, 2019

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."