Varaico: Literature-Extracted Genetic Variants

Gene:KDM1B
Variant:p.R168*
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KDM1B

NM_001364614.2:p.R168*

Associated Papers

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Halvorsen M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34930847 (PubMed )
Supplement: pnas.2115140118.sd03.xlsx › Dataset_S3

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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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."