Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.P284delFs
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HPDL

NM_032756.4:p.P284delFs

Associated Papers

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Alecu JE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."