Raw data SHANKs variants FILDIL project

DOI

A dataset of raw data for the exome sequencing of 5 patients carrying pathogenic/likely pathogenic variants in SHANKs genes.

Pending publication of its associated paper ("Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases")

Identifier
DOI https://doi.org/10.34810/data2015
Metadata Access https://dataverse.csuc.cat/oai?verb=GetRecord&metadataPrefix=oai_datacite&identifier=doi:10.34810/data2015
Provenance
Creator Spataro, Nino ORCID logo; Ruiz, Anna ORCID logo
Publisher CORA.Repositori de Dades de Recerca
Contributor Spataro, Nino; Ruiz Nel·lo, Anna
Publication Year 2025
Funding Reference Instituto de Salud Carlos III-FEDER PI19/01902
Rights CC BY-NC-ND 4.0; info:eu-repo/semantics/restrictedAccess; http://creativecommons.org/licenses/by-nc-nd/4.0
OpenAccess false
Contact Spataro, Nino (Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.); Ruiz Nel·lo, Anna (Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.)
Representation
Resource Type Genomic data; Dataset
Format application/gzip; application/x-gzip; text/plain
Size 204316431; 228300294; 172299375; 188807723; 2373775950; 2510821968; 2337459944; 2473613265; 1026493457; 1082732719; 1018335427; 1076758831; 503168875; 550453171; 495235557; 540751263; 1071528284; 1124932828; 1054016588; 1106419933; 555237476; 574213032; 545331800; 562932162; 855322978; 895605112; 964926936; 995690702; 851190629; 889984977; 962805573; 991513004; 244024262; 255805101; 316103364; 327867051; 241401133; 253480680; 312265374; 324174693; 802479915; 823346931; 802892004; 825020398; 11998
Version 1.0
Discipline Life Sciences; Medicine