Varaico: Literature-Extracted Genetic Variants

Gene:TSPAN12
Variant:p.P255P
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TSPAN12

NM_012338.4:p.P255P

Associated Papers

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.

Tao T et al.

Investigative Ophthalmology & Visual Science, 2021

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity.

Rathi S et al.

The British Journal of Ophthalmology, 2018

Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.

Chen L et al.

Current Molecular Medicine, 2018

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Fei P et al.

Molecular Vision, 2014

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

A family with Wagner syndrome with uveitis and a new versican mutation.

Rothschild PR et al.

Molecular Vision, 2013

Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.

Kondo H et al.

American Journal of Ophthalmology, 2011

Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.

Mohd Khair SZN et al.

Journal of Ophthalmic & Vision Research, 0

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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."