Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.H749Q
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SAMD9

NM_017654.4:p.H749Q

Associated Papers

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.

Yoshida M et al.

British Journal of Haematology, 2020

Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.

Deigendesch N et al.

Rheumatology (oxford, England), 2020

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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."