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Pedigree and MTR c.3518C>T (p.P1173L) and LMBRD1 c.1056delG (p.L352fsX18) mutations. (a) Familial pedigree. Shaded shapes indicate affected individuals. Asterisk (*) indicates whole-exome sequencing performed. (b) An electropherogram of the MTR c.3518C>T (p.P1173L) and LMBRD1 c.1056delG (p.L352fsX18) alterations in the proband. (c) Sequence conservation plots at the MTR p.P1173L mutated site amino acid position across different species
