Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P1204T
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MYO7A

NM_000260.4:p.P1204T

Associated Papers

Adaptive optics retinal imaging in patients with usher syndrome.

Kempf M et al.

Frontiers in Ophthalmology, 2024

Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

Galbis-Martínez L et al.

Acta Ophthalmologica, 2021

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S5_Usher

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T et al.

Molecular Genetics & Genomic Medicine, 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."