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Article

Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.

Clinical dysmorphology - 1 Oct 2020

Türkyilmaz Ayberk, Türkdoğan Dilşad, Görmez Zeliha, Ekinci Gazanfer

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Share to Atrophy
Share to Cell Cycle Proteins
Share to Cerebellar Diseases
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

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Share to Structural Maintenance of Chromosome Protein 1

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Identifiers

PMID: 32496272
DOI: 10.1097/MCD.0000000000000326

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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