Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA4
Variant:p.R187*
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PNPLA4

NM_004650.3:p.R187*

Associated Papers

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.

Dantsev IS et al.

Translational Pediatrics, 2025

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Maimaris J et al.

Journal of Clinical Immunology, 2024

39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Prasad A et al.

Bmc Medical Genetics, 2018

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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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."