Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPHN1

Variant:p.Q184fs

Back to variants list

OPHN1

NM_002547.3:p.Q184fs

hg38:chrX:68213907 T>TN

Associated Papers

Expanding the phenotypic spectrum associated with OPHN1 variants.

Schwartz TS et al.

European Journal of Medical Genetics, 2019

29960046 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."