Varaico: Literature-Extracted Genetic Variants

Gene:ROGDI
Variant:p.K39_E40Splc
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ROGDI

NM_024589.3:p.K39_E40Splc

Associated Papers

Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.

Muthaffar OY et al.

Plos One, 2024

Recessive gene disruptions in autism spectrum disorder.

Doan RN et al.

Nature Genetics, 2019

31209396 (PubMed )
Supplement: NIHMS1528530-supplement-1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."