Varaico: Literature-Extracted Genetic Variants

Gene:TSR2
Variant:p.M1T
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TSR2

NM_058163.3:p.M1T

Associated Papers

Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.

Chen T et al.

Clinical Genetics, 2022

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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."