Varaico: Literature-Extracted Genetic Variants

Gene:ROGDI
Variant:p.K215_N216Splc
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ROGDI

NM_024589.3:p.K215_N216Splc

Associated Papers

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.

Essid M et al.

Clinical Genetics, 2025

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