Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.E115Splc
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RDH12

NM_152443.3:p.E115Splc

Associated Papers

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.

Jin J et al.

Brain Topography, 2022

Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.

Zhu L et al.

Ophthalmic Genetics, 2021

Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.

Wang Y et al.

Frontiers in Genetics, 2021

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Zou X et al.

Retina (philadelphia, Pa.), 2019

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Sharon D et al.

Molecular Vision, 2015

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2014

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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."