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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNHD1

Variant:p.H2458Y

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DNHD1

NM_144666.3:p.H2458Y

hg38:chr11:6548918 C>T

Associated Papers

Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension.

Dodson MW et al.

Erj Open Research, 2025

40726512 (PubMed )

Supplement: 01322-2024.SUPPLEMENT.pdf

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

Baker SW et al.

The Journal of Molecular Diagnostics : Jmd, 2019

30577886 (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."