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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Details on Person PALB2 N1039Ifs*2 [nucleoplasm]

Class:IdEntityWithAccessionedSequence:9704821
_displayNamePALB2 N1039Ifs*2 [nucleoplasm]
_timestamp2021-04-01 19:25:40
compartment[Compartment:7660] nucleoplasm
created[InstanceEdit:9704817] Orlic-Milacic, Marija, 2020-10-14
crossReference[DatabaseIdentifier:9726042] LOVD:0000750069
[DatabaseIdentifier:9726039] LOVD:0000754843
[DatabaseIdentifier:9726023] LOVD:0000044633
[DatabaseIdentifier:9726028] LOVD:0000079941
[DatabaseIdentifier:9726041] LOVD:0000079942
[DatabaseIdentifier:9726026] LOVD:0000079943
[DatabaseIdentifier:9725990] LOVD:0000079944
[DatabaseIdentifier:9726044] LOVD:0000080394
[DatabaseIdentifier:9726001] LOVD:0000080469
[DatabaseIdentifier:9726021] LOVD:0000081478
disease[Disease:9704435] Fanconi anemia
[Disease:1500576] breast cancer
[Disease:1500689] cancer
endCoordinate1039
hasModifiedResidue[FragmentReplacedModification:9704815] Replacement of residues 1039 to 1039 by I
literatureReference[LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
[LiteratureReference:9704791] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
modified[InstanceEdit:9704934] Orlic-Milacic, Marija, 2020-10-15
[InstanceEdit:9726054] Orlic-Milacic, Marija, 2021-04-01
namePALB2 N1039Ifs*2
PALB2 Asn1039Ilefs*2
referenceEntity[ReferenceGeneProduct:241569] UniProt:Q86YC2 PALB2 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9704822] R-HSA-9704821.1
startCoordinate1
(hasCandidate)[CandidateSet:9704406] PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by PALB2 N1039Ifs*2 [nucleoplasm] (9704821)