In another patient (#62346) we found borderline non-significant low expression of MCOLN1 with 10 out of 11 reads expressing an intronic VUS (c.681-19A>C, Fig. 4f ).
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In another patient (#62346) we found borderline non-significant low expression of MCOLN1 with 10 out of 11 reads expressing an intronic VUS (c.681-19A>C, Fig. 4f ).