Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.K894E
Back to variants list

SAMD9

NM_017654.4:p.K894E

Associated Papers

Report of two patients in whom comparisons of the somatic mutation profile were useful for the diagnosis of metastatic tumors.

Furukawa K et al.

Surgical Case Reports, 2022

36459241 (PubMed )
Supplement: 40792_2022_1566_MOESM2_ESM.pdf

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."