Varaico: Literature-Extracted Genetic Variants

Gene:ERMARD
Variant:p.S540G
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ERMARD

NM_018341.3:p.S540G

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Mammalian conserved ADAR targets comprise only a small fragment of the human editosome.

Pinto Y et al.

Genome Biology, 2014

24393560 (PubMed )
Supplement: gb-2014-15-1-r5-S1.xlsx › supplementary_table_10

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes.

Payne F et al.

Biochemical and Biophysical Research Communications, 2005

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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."