Varaico: Literature-Extracted Genetic Variants

Gene:AP1S2
Variant:p.R60Splc
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AP1S2

NM_001272071.2:p.R60Splc

Associated Papers

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

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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."