Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Q80H
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RS1

NM_000330.4:p.Q80H

Associated Papers

Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.

Wei X et al.

Investigative Ophthalmology & Visual Science, 2024

38324300 (PubMed )
Supplement: iovs-65-2-17_s001.pdf

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bai Z et al.

Bmc Medical Genomics, 2021

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