Varaico: Literature-Extracted Genetic Variants

Gene:LRPAP1
Variant:p.N202delFs
Back to variants list

LRPAP1

NM_002337.4:p.N202delFs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.

Feng CY et al.

Scientific Reports, 2017

Mutations in LRPAP1 are associated with severe myopia in humans.

Aldahmesh MA et al.

American Journal of Human Genetics, 2013

Childhood Myopic Foveoschisis in LRPAP1-associated Myopia.

Almazyead M et al.

Middle East African Journal of Ophthalmology, 0

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."