Varaico: Literature-Extracted Genetic Variants

Gene:MYSM1
Variant:p.R478*
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MYSM1

NM_001085487.3:p.R478*

Associated Papers

Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature.

Haroon A et al.

Clinical Hematology International, 2025

Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.

Sakovich IS et al.

Journal of Clinical Immunology, 2023

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

Pelagiadis I et al.

Children (basel, Switzerland), 2023

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

[A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review].

Huang J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.

Li N et al.

Gene, 2020

Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review.

Fiore A et al.

International Journal of Molecular Sciences, 2020

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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."