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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B3

Variant:p.R80_A87del8

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HSD17B3

NM_000197.2:p.R80_A87del8

hg38:chr9:96254883 TGGCCTCTAGTTTTTCCAGCGTCCG>T

Associated Papers

Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene.

Nagaraja MR et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

20583543 (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."