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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPHB5

Variant:p.D116_C117del2

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GPHB5

NM_145171.4:p.D116_C117del2

hg38:chr14:63312968 CCGCAGT>C

Associated Papers

Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.

Miyai K

Endocrine Journal, 2007

17287585 (PubMed )

[Molecular genetics of congenital isolated thyrotropin deficiency].

Miyai K

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994

8196185 (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."