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Details on Person Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
| Class:Id | LiteratureReference:9704776 |
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| _displayName | Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer |
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| _timestamp | 2020-10-14 02:45:48 |
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| author | [Person:9704768] Reid, Sarah
[Person:2429709] Schindler, Detlev
[Person:6786240] Hanenberg, Helmut
[Person:8984274] Barker, Karen
[Person:9704778] Hanks, Sandra
[Person:9704780] Kalb, Reinhard
[Person:5661069] Neveling, Kornelia
[Person:5632450] Kelly, Patrick
[Person:9704772] Seal, Sheila
[Person:9704779] Freund, Marcel
[Person:9704775] Wurm, Melanie
[Person:9704769] Batish, Sat Dev
[Person:6785971] Lach, Francis P
[Person:9704781] Yetgin, Sevgi
[Person:2429721] Neitzel, Heidemarie
[Person:9704774] Ariffin, Hany
[Person:9704754] Tischkowitz, Marc
[Person:9704770] Mathew, Christopher G
[Person:9704771] Auerbach, Arleen D
[Person:9704773] Rahman, Nazneen |
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| created | [InstanceEdit:9704777] Orlic-Milacic, Marija, 2020-10-14 |
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| journal | Nat Genet |
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| pages | 162-4 |
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| pubMedIdentifier | 17200671 |
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| title | Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer |
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| volume | 39 |
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| year | 2007 |
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| (literatureReference) | [Pathway:9701193] Defective homologous recombination repair (HRR) due to PALB2 loss of function [Homo sapiens]
[FailedReaction:9704408] Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C [Homo sapiens]
[Summation:9704412] The WD40 domain located in the C-terminus of PALB2, between ...
[EntityWithAccessionedSequence:9704482] PALB2 R753* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704749] PALB2 T841Qfs*10 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704790] PALB2 Y1183* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704801] PALB2 Q988* [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704802] PALB2 V132Afs*45 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704808] PALB2 L253Yfs*26 [nucleoplasm] [Homo sapiens]
[EntityWithAccessionedSequence:9704819] PALB2 K1098Nfs*23 [nucleoplasm] [Homo sapiens] |
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