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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD9

Variant:p.V1276D

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SAMD9

NM_017654.4:p.V1276D

hg38:chr7:93102271 A>T

Associated Papers

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S et al.

Nature Genetics, 2016

27182967 (PubMed )

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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."