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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPDL

Variant:p.P106delFs

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HPDL

NM_032756.4:p.P106delFs

hg38:chr1:45327463 TC>T

Associated Papers

Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

Baggiani M et al.

Cell Death & Disease, 2026

41720761 (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."