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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD1

Variant:p.G22V

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MFSD1

NM_022736.4:p.G22V

hg38:chr3:158802217 G>T

Associated Papers

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Kozyra EJ et al.

Leukemia, 2020

32555368 (PubMed )

Supplement: 41375_2020_899_MOESM1_ESM.docx

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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."