Varaico: Literature-Extracted Genetic Variants

Gene:EFHC1
Variant:p.R182C
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EFHC1

NM_018100.4:p.R182C

Associated Papers

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › untreated

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

Bailey JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Jara-Prado A et al.

Seizure, 2012

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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."