Varaico: Literature-Extracted Genetic Variants

Gene:EGR1
Variant:p.V194M
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EGR1

NM_001964.3:p.V194M

Associated Papers

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Xiao D et al.

Frontiers in Genetics, 2024

39076170 (PubMed )
Supplement: Table1.DOCX

A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis.

Sun XJ et al.

Nature, 2013

23812588 (PubMed )
Supplement: NIHMS479702-supplement-1.doc
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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."