Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.I1152V
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MED12

NM_005120.3:p.I1152V

Associated Papers

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.

Leite AJDC et al.

Plos One, 2022

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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."