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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYSM1

Variant:p.E536_E537delFs

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MYSM1

NM_001085487.3:p.E536_E537delFs

hg38:chr1:58671919 CCTCTT>C

Associated Papers

A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4.

Zhan X et al.

British Journal of Biomedical Science, 2021

33618624 (PubMed )

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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."