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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPD1

Variant:p.R290K

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HSPD1

NM_002156.5:p.R290K

hg38:chr2:197490297 C>T

Associated Papers

ndufs2-/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.

Mitchell DV et al.

Biorxiv : the Preprint Server for Biology, 2025

40791373 (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."