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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACBD6

Variant:p.I240_V241delFs

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ACBD6

NM_032360.4:p.I240_V241delFs

hg38:chr1:180288488 CTACAA>C

Associated Papers

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Kaiyrzhanov R et al.

Brain : a Journal of Neurology, 2024

37951597 (PubMed )

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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."