Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.N449S
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SAMD9

NM_017654.4:p.N449S

Associated Papers

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.

Sahoo SS et al.

Nature Medicine, 2021

Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.

Boraldi F et al.

Frontiers in Medicine, 2019

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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."