Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.W1180*
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SAMD9L

NM_152703.5:p.W1180*

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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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."