Varaico: Literature-Extracted Genetic Variants

Gene:C12orf57
Variant:p.K49*
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C12orf57

NM_138425.4:p.K49*

Associated Papers

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

Nerakh G et al.

Brain & Development, 2023

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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."