Biallelic variants in the neuronal isoform of the DST gene as a cause of hereditary sensory neuropathy

Lassuthova, Petra; Lischka, Annette; Kurth, Ingo; Eggermann, Katja; Mazanec, Radim; Grecmalova, Dagmar

doi:1018-4813

Biallelic variants in the neuronal isoform of the DST gene as a cause of hereditary sensory neuropathy

Lassuthova, Petra ; Grecmalova, Dagmar ; Lischka, Annette^RWTH* ; Eggermann, Katja^RWTH* ; Kurth, Ingo^RWTH* ; Mazanec, Radim

In
Abstracts from the 57th European Society of Human Genetics (ESHG) Conference

In
European journal of human genetics 32(Supplement 2), Seiten/Artikel-Nr.:EP12.020

2024

Konferenz/Event:57. Conference of the European-Society-of-Human-Genetics , Berlin , Germany , ESHG 2024 , 2024-06-01 - 2024-06-04

ImpressumBasingstoke : Stockton Press

Umfang1099-1099

ISSN1018-4813

e-Poster abstract. - In Artikel: Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: e-Posters. - Seiten 904–1230

Online
URL: https://doi.org/10.1038/s41431-024-01733-5

Einrichtungen

Institut und Lehrstuhl für Humangenetik und Genommedizin (924610)

Thematische Einordnung (Klassifikation)
DDC: 610

Externer link:

Homepage of journal

Dokumenttyp
Abstract/Journal Article/Contribution to a conference proceedings

Format
online, print

Sprache
English

Anmerkung
No peer reviewed article

Externe Identnummern
WOS Core Collection: WOS:001421430500825

Interne Identnummern
RWTH-2025-10588
Datensatz-ID: 1023232

Beteiligte Länder
Czech Republic, Germany

Lizenzstatus der Zeitschrift

; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection