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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HESX1

Variant:p.L38_H42delFs

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HESX1

NM_003865.3:p.L38_H42delFs

hg38:chr3:57199794 TGGGGTTTCATTAA>T

Associated Papers

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular Endocrinology, 2011

21447626 (PubMed )

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

19837867 (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."