Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.M17delFs
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FHL1

NM_001159699.2:p.M17delFs

Associated Papers

Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Ahmari AA et al.

Blood Research, 2021

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.

Muralitharan S et al.

American Journal of Hematology, 2007

Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.

Ishii E et al.

Critical Reviews in Oncology/hematology, 2005

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

Ueda I et al.

British Journal of Haematology, 2003

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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."