Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.V74Splc
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GATA1

NM_002049.4:p.V74Splc

Associated Papers

De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease.

Liu S et al.

Frontiers in Genetics, 2023

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.

Wang T et al.

Annals of Translational Medicine, 2020

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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."