Varaico: Literature-Extracted Genetic Variants

Gene:MYSM1
Variant:p.L133L
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MYSM1

NM_001085487.3:p.L133L

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

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

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

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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."