Varaico: Literature-Extracted Genetic Variants

Gene:TTF2
Variant:p.M1I
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TTF2

NM_003594.4:p.M1I

Associated Papers

A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.

Sargiannidou I et al.

Neurogenetics, 2015

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Conserved glycine residues in the fusion peptide of the paramyxovirus fusion protein regulate activation of the native state.

Russell CJ et al.

Journal of Virology, 2004

Studies on the fusion peptide of a paramyxovirus fusion glycoprotein: roles of conserved residues in cell fusion.

Horvath CM et al.

Journal of Virology, 1992

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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."