Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.R452*
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POC1B

NM_172240.3:p.R452*

Associated Papers

A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.

Hayashi T et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.

Hua J et al.

Human Molecular Genetics, 2023

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.

Kameya S et al.

Investigative Ophthalmology & Visual Science, 2019

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.

Jin X et al.

Ophthalmic Genetics, 2018

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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."