Varaico: Literature-Extracted Genetic Variants

Gene:ABCC11
Variant:p.C543Y
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ABCC11

NM_001370497.1:p.C543Y

Associated Papers

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Cox AJ et al.

Genetics Research, 2019

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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."