Varaico: Literature-Extracted Genetic Variants

Gene:GCA
Variant:p.D102_R103Splc
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GCA

NM_012198.5:p.D102_R103Splc

Associated Papers

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Toro JR et al.

Journal of Medical Genetics, 2008

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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."