Varaico: Literature-Extracted Genetic Variants

Gene:EDEM3
Variant:p.R85*
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EDEM3

NM_025191.4:p.R85*

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_9

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

Genome-wide characteristics of de novo mutations in autism.

Yuen RK et al.

Npj Genomic Medicine, 2016

27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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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."