Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Q195_D196Splc
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GNAS

NM_000516.7:p.Q195_D196Splc

Associated Papers

Analysis of aberrantly spliced transcripts of a novel de novo GNAS mutant in a male with albright hereditary osteodystrophy and PHP1A.

Ham HJ et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2015

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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."