Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.K44N
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TGIF1

NM_003244.4:p.K44N

Associated Papers

TGIF1 homeodomain interacts with Smad MH1 domain and represses TGF-β signaling.

Guca E et al.

Nucleic Acids Research, 2018

30060237 (PubMed )
Supplement: gky680_supplemental_files.zip › Suppl._FIGs.pdf

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

Wotton D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Richieri-Costa A et al.

Brain & Development, 2008

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