Work

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects

Year: 2024

Type: article

Abstract: Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.

Source: Clinical Genetics

DOI: 10.1111/cge.14680

Authors: Naif A. M. Almontashiri, Aziza Mushiba, Haya Alruqi, Essa Alharby, Jamil Amjad Hashmi

Institutions: Taibah University, King Fahd Medical City

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4405809601

FWCI: 0.481

Cites: 3

Cited by: 2

Related to: 10