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. 2023 Jul 5;18:177. doi: 10.1186/s13023-023-02780-9

Fig. 3.

Fig. 3

The nine novel variants in our study have been shown. We displayed the positions of the variant-type residues (b, d, f, h, j, l, m, p) and the wild-type residues (a, c, e, g, i, k, m, o) on the protein. With the exception of one variant, a frameshift variant, all of other variants were missense. We used the I-Tesser database to anticipate how this mutation would affect the protein's structure