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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC1

Variant:p.T59delFs

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EXOSC1

NM_016046.5:p.T59delFs

hg38:chr10:97443282 TG>T

Associated Papers

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C et al.

American Journal of Human Genetics, 1997

9326317 (PubMed )

Hereditary multiple exostoses.

CANNON JF

American Journal of Human Genetics, 1954

14349947 (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."