Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A3
Variant:p.L317_*319delFs
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SRD5A3

NM_024592.5:p.L317_*319delFs

Associated Papers

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Schmid CM et al.

European Journal of Human Genetics : Ejhg, 2025

39668183 (PubMed )
Supplement: 41431_2024_1760_MOESM2_ESM.xlsx › Tabelle1

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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