Varaico: Literature-Extracted Genetic Variants

Gene:HACE1
Variant:p.Q618delFs
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HACE1

NM_020771.4:p.Q618delFs

Associated Papers

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Yousaf H et al.

Human Genomics, 2026

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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."