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Human PTCH2 wild-type allele is located within 1p33-p34 and is approximately 21 kb in length. This allele, which encodes protein patched homolog 2 protein, is involved in the formation of embryonic structures. Aberrant allelic expression has been linked to medulloblastoma and basal cell carcinoma, suggesting that variants play a role in the development of some tumors.
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