Varaico: Literature-Extracted Genetic Variants

Gene:DHRS9
Variant:p.S262F
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DHRS9

NM_001376924.1:p.S262F

Associated Papers

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Vetri L et al.

International Journal of Molecular Sciences, 2024

38256219 (PubMed )
Supplement: ijms-25-01146-s001.zip › Supplementary_Table-S2.pdf

Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.

Calì F et al.

Medicina (kaunas, Lithuania), 2020

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