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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RDH16

Variant:p.D75E

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RDH16

NM_003708.5:p.D75E

hg38:chr12:56957238 G>T

Associated Papers

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Snuderl M et al.

Nature Communications, 2018

30030436 (PubMed )

Supplement: 41467_2018_5029_MOESM1_ESM.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."