Query author contributions in Reactome

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Details on Person Neveling, Kornelia

Class:Id	Person:5661069
_displayName	Neveling, Kornelia
_timestamp	2015-01-08 15:37:46
created	[InstanceEdit:5661045] Jassal, Bijay, 2015-01-08
firstname	Kornelia
initial	K
surname	Neveling
(author)	[LiteratureReference:5661029] Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing [LiteratureReference:8877039] Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy [LiteratureReference:9637193] Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype [LiteratureReference:9704776] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer [LiteratureReference:9772729] A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
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No pathways have been reviewed or authored by Neveling, Kornelia (5661069)