Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.P238L
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PRKCSH

NM_001289104.2:p.P238L

Associated Papers

The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.

Geng C et al.

Journal of Clinical Neurology (seoul, Korea), 2025

40635539 (PubMed )
Supplement: jcn-21-340-s001.pdf

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Kubánek M et al.

Journal of Clinical Medicine, 2020

32235386 (PubMed )
Supplement: jcm-09-00937-s001.pdf
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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."