Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.R1632C
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CHD7

NM_017780.4:p.R1632C

Associated Papers

Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.

Que Y et al.

Journal of Translational Medicine, 2024

39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge

Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.

Bu H et al.

Molecular Medicine Reports, 2019

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
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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."