Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.T39M
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ACBD5

NM_145698.5:p.T39M

Associated Papers

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

33776059 (PubMed )
Supplement: 41431_2021_872_MOESM1_ESM.xlsx › Sheet1

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Scott HA et al.

Cold Spring Harbor Molecular Case Studies, 2020

32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
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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."