Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.C204R
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GATA1

NM_002049.4:p.C204R

Associated Papers

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

Nesbit MA et al.

The Journal of Biological Chemistry, 2004

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

Nichols KE et al.

Nature Genetics, 2000

Use of altered specificity mutants to probe a specific protein-protein interaction in differentiation: the GATA-1:FOG complex.

Crispino JD et al.

Molecular Cell, 1999

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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."