Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.P29S
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SOX3

NM_005634.3:p.P29S

Associated Papers

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

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

Elli FM et al.

Human Mutation, 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."