Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.L515_K516delFs
Back to variants list

P3H2

NM_018192.4:p.L515_K516delFs

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Magliyah MS et al.

Retina (philadelphia, Pa.), 2023

Further phenotypic characterization of LEPREL1-related ectopia lentis.

Khan AO

Ophthalmic Genetics, 2019

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."