Varaico: Literature-Extracted Genetic Variants

Gene:GTF2A1L
Variant:p.P229insFs
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GTF2A1L

NM_006872.5:p.P229insFs

Associated Papers

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.

Kortüm F et al.

Pediatrics, 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB et al.

American Journal of Human Genetics, 2015

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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."