Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.P102S
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SPG11

NM_025137.4:p.P102S

Associated Papers

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
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