Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.G205D
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AR

NM_000044.6:p.G205D

Associated Papers

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL et al.

Epilepsia, 2018

The function of the yeast molecular chaperone Sse1 is mechanistically distinct from the closely related hsp70 family.

Shaner L et al.

The Journal of Biological Chemistry, 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."