Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.Y183insFs
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OPHN1

NM_002547.3:p.Y183insFs

Associated Papers

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.

Nuovo S et al.

American Journal of Medical Genetics. Part A, 2021

Expanding the phenotypic spectrum associated with OPHN1 variants.

Schwartz TS et al.

European Journal of Medical Genetics, 2019

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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."