Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.W87*
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HACD1

NM_014241.4:p.W87*

Associated Papers

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.

Abbasi-Moheb L et al.

Clinical Genetics, 2021

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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."