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中文Bap1 Tumor Predisposition Syndrome
Alias:
Bap1 Cancer Syndrome
Common Syndrome
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
Bap1-Related Tumor Predisposition Syndrome
Tumor Predisposition Syndrome
Bap1-Tpds
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Bap1肿瘤易感综合征，又称Bap1癌症综合征，与胆管癌和肿瘤易感综合征1有关。与Bap1肿瘤易感综合征有关的重要基因是BAP1（BRCA1相关蛋白1），其相关通路/超级通路包括同源导向修复和同源DNA配对和链交换。附属组织包括肾和皮肤，相关表型为与MLN4924（一种NAE抑制剂）合成致死和同源重组修复频率降低。
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Basic Information
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Reference
MALACARDS
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MGI
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