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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA4

Variant:p.L25R

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PNPLA4

NM_004650.3:p.L25R

hg38:chrX:7926046 A>C

Associated Papers

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

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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."