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The following is a list of genetic disorders and if known, causal type of mutation and the chromosome involved. The list of human genes includes genes not listed here, which also affect predisposition toward certain diseases. P – Point mutation, or any insertion/deletion entirely inside one gene D – Deletion of a gene or genes C – Whole chromosome extra, missing, or both (see chromosomal aberrations) T – Trinucleotide repeat disorders: gene is extended in length |
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