Varaico: Literature-Extracted Genetic Variants

Gene:GPHN
Variant:p.D382N
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GPHN

NM_020806.5:p.D382N

Associated Papers

Clinical value of genetic analysis in prenatal diagnosis of short femur.

Liu J et al.

Molecular Genetics & Genomic Medicine, 2019

Extended hormone binding site of the human thyroid stimulating hormone receptor: distinctive acidic residues in the hinge region are involved in bovine thyroid stimulating hormone binding and receptor activation.

Mueller S et al.

The Journal of Biological Chemistry, 2008

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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."