Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.S73S
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HESX1

NM_003865.3:p.S73S

Associated Papers

Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation.

Coutinho E et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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

McNay DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Genetics of septo-optic dysplasia.

Kelberman D et al.

Pituitary, 2007

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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."