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(a) Phylogenetic analyses of CYP102A1 variants are based on the amino acid substitutions (Table 2 and Fig. S1) and silent mutations are excluded.

In relatives of cases where both BRCA1 and BRCA2 mutations are excluded, the risk remains undetermined.

Also, note that PAML cannot provide a dNon/dS ratio for nonsense mutation (nonsense mutations are excluded and a 61x61 codon substitution matrix is used).

This therefore implies an important role for the ability of CBX2 to interact with H3K27me3 and is consistent with our observation that missense mutations are excluded from the chromodomain of CBX2.

Testing for the A1555G mutation (associated with aminoglycoside-induced hearing loss) and the A7445G mutation, both of which are associated with some rare familial cases of hearing loss, may be appropriate after common GJB2 mutations are excluded.

If nonsyndromic deafness is suspected AND the pedigree suggests mitochondrial DNA inheritance: Testing for the A1555G mutation (associated with aminoglycoside-induced hearing loss) and the A7445G mutation, both of which are associated with some rare familial cases of hearing loss, may be appropriate after common GJB2 mutations are excluded.

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Similar(53)

Silent mutations were excluded from the bioinformatics pipeline analysis.

Silent mutations were excluded from the bioinformatics analysis.

Note that truncating mutations were excluded from our analysis, as no prediction is possible from the structure beyond noting probable protein misfolding.

Several known NRTI-resistance mutations were excluded from consideration as an SDRM: (i) K65N is a recently described rare NRTI-resistance mutation, which was present on two expert lists and which appears to have a phenotypic effect similar to K65R [10] [10].

Pyrazinamide-resistance conferring mutations were excluded.

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