Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.G289E
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SDS

NM_006843.3:p.G289E

Associated Papers

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.

Mu J et al.

Journal of Medical Genetics, 2019

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

Rhayem Y et al.

The Journal of Biological Chemistry, 2015

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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."