Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.A366T
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GNAS

NM_000516.7:p.A366T

Associated Papers

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.

Kumar RD et al.

American Journal of Medical Genetics. Part A, 2022

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

Richard N et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.

Joseph AW et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."