Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.L248_I249Splc
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GATA1

NM_002049.4:p.L248_I249Splc

Associated Papers

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Two double heterozygous mutations in the F7 gene show different manifestations.

Nagaizumi K et al.

British Journal of Haematology, 2002

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