Varaico: Literature-Extracted Genetic Variants

Gene:EGR1
Variant:p.S67S
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EGR1

NM_001964.3:p.S67S

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.

Tasiopoulou M et al.

Blood Cells, Molecules & Diseases, 0

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