Varaico: Literature-Extracted Genetic Variants

Gene:TTF2
Variant:p.E59K
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TTF2

NM_003594.4:p.E59K

Associated Papers

Munc18-1 mutations that strongly impair SNARE-complex binding support normal synaptic transmission.

Meijer M et al.

The Embo Journal, 2012

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

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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."