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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HACE1

Variant:p.W530*

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HACE1

NM_020771.4:p.W530*

hg38:chr6:104777295 C>T

Associated Papers

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA et al.

Pediatric Neurology, 2024

38301322 (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."