Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.M104_V105Splc
Back to variants list

OPHN1

NM_002547.3:p.M104_V105Splc

Associated Papers

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Ballesta-Martínez MJ et al.

Orphanet Journal of Rare Diseases, 2023

37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
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."