Varaico: Literature-Extracted Genetic Variants

Gene:PWWP3B
Variant:p.L7Q
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PWWP3B

NM_001171020.2:p.L7Q

Associated Papers

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Hirata H et al.

American Journal of Human Genetics, 2013

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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."