Varaico: Literature-Extracted Genetic Variants

Gene:POC1B
Variant:p.H237R
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POC1B

NM_172240.3:p.H237R

Associated Papers

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

Hua J et al.

Human Molecular Genetics, 2023

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."