 | | VARIANT: 79728v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06506 Double-strand break repair nt06508 Interstrand crosslink repair |
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| Disease |
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| Reference |
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| Authors |
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR |
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| Title |
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. |
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| Journal |
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| Reference |
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| Authors |
Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR |
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| Title |
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. |
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| Journal |
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| LinkDB |
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