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Query author contributions in Reactome

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Details on Person PALB2 T841Qfs*10 [nucleoplasm]

Class:IdEntityWithAccessionedSequence:9704749
_displayNamePALB2 T841Qfs*10 [nucleoplasm]
_timestamp2021-04-01 19:25:45
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9704753] Orlic-Milacic, Marija, 2020-10-13
crossReference[DatabaseIdentifier:9726004] LOVD:0000736966
[DatabaseIdentifier:9726005] LOVD:0000044631
[DatabaseIdentifier:9725989] LOVD:0000080072
[DatabaseIdentifier:9726046] LOVD:0000080073
[DatabaseIdentifier:9726043] LOVD:0000080074
[DatabaseIdentifier:9726047] LOVD:0000080391
[DatabaseIdentifier:9726011] LOVD:0000080458
disease[Disease:1500689] cancer
[Disease:1500576] breast cancer
[Disease:9704435] Fanconi anemia
endCoordinate849
hasModifiedResidue[FragmentReplacedModification:9704747] Replacement of residues 841 to 849 by QQSFLLLIA
literatureReference[LiteratureReference:9704742] Analysis of PALB2/FANCN-associated breast cancer families
[LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
modified[InstanceEdit:9704814] Orlic-Milacic, Marija, 2020-10-14
[InstanceEdit:9704934] Orlic-Milacic, Marija, 2020-10-15
[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
namePALB2 T841Qfs*10
PALB2 Thr841Glnfs*10
PALB2 T841QfsTER10
PALB2 Thr841GlnfsTER10
referenceEntity[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9704756] R-HSA-9704749.1
startCoordinate1
(hasMember)[CandidateSet:9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by PALB2 T841Qfs*10 [nucleoplasm] (9704749)