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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAD1L1

Variant:p.E453_A454Splc

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MAD1L1

NM_001013836.2:p.E453_A454Splc

hg38:chr7:2002123 T>A

Associated Papers

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Savola P et al.

Haematologica, 2020

33256375 (PubMed )

Supplement: 2019_220889_SAVOLA_SUPPL.pdf

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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."