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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX3

Variant:p.A73A

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SOX3

NM_005634.3:p.A73A

hg38:chrX:140504842 G>A

Associated Papers

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

McNay DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

17148560 (PubMed )

Genetics of septo-optic dysplasia.

Kelberman D et al.

Pituitary, 2007

17587179 (PubMed )

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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."