Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N78T
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RHO

NM_000539.3:p.N78T

Associated Papers

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V et al.

American Journal of Human Genetics, 2019

30929742 (PubMed )
Supplement: mmc7.pdf

Structure and function in rhodopsin. Single cysteine substitution mutants in the cytoplasmic interhelical E-F loop region show position-specific effects in transducin activation.

Yang K et al.

Biochemistry, 1996

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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."