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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.P551L

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OPTN

NM_001008212.2:p.P551L

hg38:chr10:13136784 C>T

Associated Papers

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Xiao Y et al.

Journal of Medical Genetics, 2025

39779313 (PubMed )

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )

Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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