Varaico: Literature-Extracted Genetic Variants

Gene:IDH3B
Variant:p.E62*
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IDH3B

NM_006899.5:p.E62*

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM et al.

Ophthalmology, 2016

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