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TRMT5 Variants and Gene Structure
(A) Pedigrees of the two families identified with recessively inherited TRMT5 variants. “D” indicates anonymous sperm donor.
(B) Gene structure of TRMT5 with known protein domains of the gene product and location and conservation of amino-acid residues affected by mutations (in red). Intronic regions are not drawn to scale. Shadowing in the sequence alignment represents the homology of amino-acid residues.
