Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.R602H
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PDE6B

NM_000283.4:p.R602H

Associated Papers

IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.

Sakti DH et al.

Ophthalmic Genetics, 2023

37259572 (PubMed )
Supplement: supplement_1.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
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