Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.T133delFs
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ACBD5

NM_145698.5:p.T133delFs

Associated Papers

ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.

Rudaks LI et al.

American Journal of Medical Genetics. Part A, 2024

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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."