Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.A111delFs
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PAX5

NM_016734.3:p.A111delFs

Associated Papers

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Gofin Y et al.

Human Mutation, 2022

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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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."