Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R121Q
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RLBP1

NM_000326.5:p.R121Q

Associated Papers

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG et al.

Pnas Nexus, 2023

36909829 (PubMed )
Supplement: pgad043_supplementary_data.zip › PNASNEXUS-PNASNEXUS-2022-00861-s02.xlsx › Table

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Jaffal L et al.

European Journal of Human Genetics : Ejhg, 2021

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