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. Author manuscript; available in PMC: 2022 Sep 1.
Published in final edited form as: Hum Genet. 2021 Jun 29;140(9):1299–1312. doi: 10.1007/s00439-021-02300-4

Figure 3. Visual summary of the IFIH1 variants identified in the seven children with partial MDA5 deficiency and VEOIBD.

Figure 3.

Pedigree indicating genotypes and variant segregation within the family are reported for each patient with partial MDA5 deficiency (patients 2 to 8). Complete LoF variants, partial functioning variants, and variants with no functional impact are indicated with red, orange and green arrows, respectively. WT, wild-type.