Varaico: Literature-Extracted Genetic Variants

Gene:GSC
Variant:p.Q134*
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GSC

NM_173849.3:p.Q134*

Associated Papers

Orthopaedic Aspects of SAMS Syndrome.

Schrander DE et al.

Journal of Pediatric Genetics, 2022

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Parry DA et al.

American Journal of Human Genetics, 2013

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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."