Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.A175A
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HESX1

NM_003865.3:p.A175A

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 266.133

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."