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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPDL

Variant:p.P264fs

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HPDL

NM_032756.4:p.P264fs

hg38:chr1:45327938 CCT>N

Associated Papers

Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy.

Shi G et al.

Nature, 2025

40634618 (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."