Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.G83delFs
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REEP1

NM_001371279.1:p.G83delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.

Kanwal S et al.

Bmc Medical Genomics, 2021

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