Varaico: Literature-Extracted Genetic Variants

Gene:AP3B2
Variant:p.E880G
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AP3B2

NM_001278512.2:p.E880G

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3
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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."