Varaico: Literature-Extracted Genetic Variants

Gene:ELMOD1
Variant:p.D318N
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ELMOD1

NM_018712.4:p.D318N

Associated Papers

Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.

Ganz J et al.

Cancer Discovery, 2022

34389641 (PubMed )
Supplement: cd-21-0245_table_s2_suppst2.xlsx › BrainVar_filtered_variants__A_

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."