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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Fig. 2

Domain structure diagram of RBM10 showing locations of domains (grey rectangles) and sequence biased regions (grey squares). Position of alteration shown with teal arrow, native sequence lost due to this alteration outlined in red, and the alternative 66 amino acid C-terminal sequence gained is depicted as a teal line. No structure or function was identified for this gained sequence

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BMC Medical Genetics

ISSN: 1471-2350

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