Varaico: Literature-Extracted Genetic Variants

Gene:MYSM1
Variant:p.E614_V615Splc
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MYSM1

NM_001085487.3:p.E614_V615Splc

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

MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.

Mathias B et al.

The Journal of Allergy and Clinical Immunology, 2024

38065233 (PubMed )
Supplement: NIHMS2022042-supplement-1.pdf

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

Sakovich IS et al.

Journal of Clinical Immunology, 2023

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Mantravadi V et al.

Frontiers in Immunology, 2021

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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."