Primer Sequence HSD3B2_1-2_FW GCTCCAGTCCTTCCTCCAGG HSD3B2_1-2_REV AGGTCAACCTCCCCACACCC HSD3B2_3_FW GGATGTGTGACAATTCACTGC HSD3B2_3_REV TCTTTCTGATCCTCATTTAACCAA HSD3B2_4_FW CATGTGGTTGCAGCTCCTTT HSD3B2_4_REV GAAGAAGACAGTAAGTTGGG HSD3B2_4INT_FW * ACCTTGTACACTTGTGC HSD3B2_4INT_REV * TGTGGCGGTTGAAGGG. 3.3. In Silico Analysis. With respect to the missense mutation, the evaluation of the risk of pathogenicity was thus the result of the following individual tools integration: MaxEntScan; Sequences from Mutation Surveyor v3.30 reporting the mutations found in Patient n.1, Patient n.2 and their parents. ( a ) Patient n.1 missense mutation HSD3B2 c.370 A>G. ( b ) Patient n.1 intronic mutation HSD3B2 c.308-6 G>A. ( c ) Patient n.2 missense mutation HSD3B2 c.370 A>G.
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