Varaico: Literature-Extracted Genetic Variants

Gene:GPHN
Variant:p.P290S
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GPHN

NM_020806.5:p.P290S

Associated Papers

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.

Wang JY et al.

Neurogenetics, 2018

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Sarfati J et al.

European Journal of Endocrinology, 2013

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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."