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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPI1

Variant:p.M1T

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SPI1

NM_003120.3:p.M1T

hg38:chr11:47378352 A>G

Associated Papers

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

35328001 (PubMed )

GATA1 mutations in red cell disorders.

Ling T et al.

Iubmb Life, 2020

31652397 (PubMed )

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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."