Varaico: Literature-Extracted Genetic Variants

Gene:DHX9
Variant:p.N44S
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DHX9

NM_001357.5:p.N44S

Associated Papers

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O et al.

Clinical Genetics, 2004

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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."