Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R414C
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OTOF

NM_194248.3:p.R414C

Associated Papers

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

Morimoto M et al.

Npj Genomic Medicine, 2023

36765070 (PubMed )
Supplement: 41525_2022_343_MOESM1_ESM.pdf
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