Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R824*
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SAMD9

NM_017654.4:p.R824*

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_31

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant.

Tanase-Nakao K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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."