Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.R685*
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SAMD9

NM_017654.4:p.R685*

Associated Papers

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.

Chang Y et al.

Frontiers in Genetics, 2021

34616428 (PubMed )
Supplement: Table_3.XLSX › C1904992

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H et al.

Journal of Medical Genetics, 2018

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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."