Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L125P
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RHO

NM_000539.3:p.L125P

Associated Papers

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

Generation of an induced pluripotent stem cell line (SYSUSCi001-A) from a congenital cataract patient carrying heterozygous mutations in BFSP1 and RHO.

Chen F et al.

Stem Cell Research, 2022

Mutations at position 125 in transmembrane helix III of rhodopsin affect the structure and signalling of the receptor.

Andrés A et al.

European Journal of Biochemistry, 2001

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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."