Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.E171K
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EXOSC1

NM_016046.5:p.E171K

Associated Papers

Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease.

Egan JB et al.

British Journal of Haematology, 2013

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.

Pirulli D et al.

Journal of Nephrology, 0

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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."