Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R221*
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SAMD9

NM_017654.4:p.R221*

Associated Papers

Somatic mosaicism in inherited bone marrow failure syndromes.

Gutierrez-Rodrigues F et al.

Best Practice & Research. Clinical Haematology, 2021

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder.

Roucher-Boulez F et al.

Frontiers in Endocrinology, 2019

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.

Schwartz JR et al.

Leukemia, 2017

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s10.xlsx › Validation
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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."