Associated Papers
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.
Ozkose GS et al.
Clinical Genetics, 2026
The Great Genotyper: a graph-based method for population genotyping of small and structural variants.
Shokrof M et al.
Gigascience, 2025
41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Cogan G et al.
Human Genetics, 2024
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