Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.K20M
Back to variants list

FHL1

NM_001159699.2:p.K20M

Associated Papers

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

Santoro A et al.

Journal of Medical Genetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."