Work

Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70173

Authors: Alja Kavčič, Jernej Avsenik, Karin Writzl, Lana Stavber, Sara Bertok, Maruša Debeljak, Nataša Šuštar, Aleš Maver, Manca Velkavrh, Aneta Soltirovska Šalamon

Institutions: Ljubljana University Medical Centre, University of Ljubljana

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7155169352

FWCI:

Cites: 11

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