Varaico: Literature-Extracted Genetic Variants

Gene:ACBD6
Variant:p.L121fs
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ACBD6

NM_032360.4:p.L121fs

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."