Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.R94G
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PTHLH

NM_198965.2:p.R94G

Associated Papers

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

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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."