Varaico: Literature-Extracted Genetic Variants

Gene:CMTM1
Variant:p.L18*
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CMTM1

NM_052999.4:p.L18*

Associated Papers

Undifferentiated embryonal sarcoma of the liver in a child: A whole exome sequencing analysis.

Kim JH et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2017

SCN8A mutation in a child presenting with seizures and developmental delays.

Malcolmson J et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_2.xlsx › VAAST_results_39011_denovo.csv
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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."