Varaico: Literature-Extracted Genetic Variants

Gene:MLPH
Variant:p.R50delins
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MLPH

NM_024101.7:p.R50delins

Associated Papers

Molecular analysis and clinical findings of Griscelli syndrome patients.

Durmaz A et al.

Journal of Pediatric Hematology/oncology, 2012

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

Mamishi S et al.

Journal of Clinical Immunology, 2008

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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."