Varaico: Literature-Extracted Genetic Variants

Gene:FRMD5
Variant:p.S354P
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FRMD5

NM_032892.5:p.S354P

Associated Papers

Neonatal-Onset Opsoclonus-Myoclonus-Ataxia-Like Syndrome Caused by De Novo FRMD5 Variant Responsive to IV Steroid Pulse Therapy: Case Report.

Gachechiladze T et al.

Neurology. Genetics, 2025

A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene.

Hammar B et al.

Neuro-ophthalmology (aeolus Press), 2024

39583022 (PubMed )
Supplement: IOPH_A_2338562_SM5719.pdf
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