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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GORAB

Variant:p.C131_K132delFs

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GORAB

NM_152281.3:p.C131_K132delFs

hg38:chr1:170539540 GCAAA>G

Associated Papers

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Jewell R et al.

Ultrastructural Pathology, 0

29424602 (PubMed )

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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."