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Exploring Baralle-Macken Syndrome: A Novel COPB1 Mutation in Consanguineous Pakistani Siblings.

American journal of medical genetics. Part A - 1 Oct 2025

Khalid Zantasha, Saleem Ayesha, Zafar Seemi, Malik Nida, Gul Asma

Abstract excerpt

Monogenic neurological disorders significantly contribute to global morbidity and mortality, yet their genetic mechanisms remain poorly understood, especially in consanguineous Pakistani populations with over 83% consanguinity rates. The underrepresentation of these populations in global genomic databases complicates the interpretation of rare genetic variants crucial for diagnostics and healthcare outcomes....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40396222
DOI: 10.1002/ajmg.a.64123

Genes

COPB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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