Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.R6R
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EXOSC6

NM_058219.3:p.R6R

Associated Papers

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

Tredano M et al.

American Journal of Medical Genetics. Part A, 2006

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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."