Varaico: Literature-Extracted Genetic Variants

Gene:AP1G1
Variant:p.E133fs
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AP1G1

NM_001128.6:p.E133fs

Associated Papers

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Usmani MA et al.

American Journal of Human Genetics, 2021

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Qiao L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
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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."