Varaico: Literature-Extracted Genetic Variants

Gene:SPESP1
Variant:p.P120insFs
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SPESP1

NM_145658.4:p.P120insFs

Associated Papers

Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report.

Yeetong P et al.

Neurology. Genetics, 2023

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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."