Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.A401A
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ANKH

NM_054027.6:p.A401A

Associated Papers

Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.

Yamada A et al.

Journal of Human Genetics, 2018

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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."