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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA4

Variant:p.S50Fs

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PNPLA4

NM_004650.3:p.S50Fs

hg38:chrX:7925971 GA>G

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

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.

Meeths M et al.

Pediatric Blood & Cancer, 2010

19953648 (PubMed )

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