Varaico: Literature-Extracted Genetic Variants

Gene:MYSM1
Variant:p.R138*
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MYSM1

NM_001085487.3:p.R138*

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

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM6_ESM.xlsx › Sheet1

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.

DeSisto J et al.

Nature Communications, 2021

34545084 (PubMed )
Supplement: 41467_2021_25709_MOESM12_ESM.xlsx › ST12
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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."