Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.S412R
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GATA1

NM_002049.4:p.S412R

Associated Papers

A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.

Zhu R et al.

Molecular Genetics & Genomic Medicine, 2020

32783365 (PubMed )
Supplement: MGG3-8-e1441-s004.xlsx › Table_S2
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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."