Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P23T
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RHO

NM_000539.3:p.P23T

Associated Papers

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

NMR study of the cataract-linked P23T mutant of human gammaD-crystallin shows minor changes in hydrophobic patches that reflect its retrograde solubility.

Pande A et al.

Biochemical and Biophysical Research Communications, 2009

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