Varaico: Literature-Extracted Genetic Variants

Gene:ZNF346
Variant:p.Q93_S94Splc
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ZNF346

NM_012279.4:p.Q93_S94Splc

Associated Papers

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Szczałuba K et al.

American Journal of Medical Genetics. Part A, 2016

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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."