Varaico: Literature-Extracted Genetic Variants

Gene:HTRA2
Variant:p.R380*
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HTRA2

NM_013247.5:p.R380*

Associated Papers

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

Tinker RJ et al.

American Journal of Ophthalmology, 2025

40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Molecular motion regulates the activity of the Mitochondrial Serine Protease HtrA2.

Merski M et al.

Cell Death & Disease, 2017

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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."