Varaico: Literature-Extracted Genetic Variants

Gene:EFHC2
Variant:p.S430Y
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EFHC2

NM_025184.4:p.S430Y

Associated Papers

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Thakran S et al.

International Journal of Molecular Sciences, 2020

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

Jia B et al.

Journal of Genetics, 2017

No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy.

Berrin T et al.

African Health Sciences, 2015

EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.

Zinn AR et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008

Genetic polymorphisms and idiopathic generalized epilepsies.

Lucarini N et al.

Pediatric Neurology, 2007

Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome.

Weiss LA et al.

Human Molecular Genetics, 2007

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Gu W et al.

Epilepsy Research, 0

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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."