Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.M43V
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POTED

NM_174981.6:p.M43V

Associated Papers

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM3_ESM.xlsx › Sheet1

Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.

Torres-Ayuso P et al.

Npj Genomic Medicine, 2018

29951225 (PubMed )
Supplement: 41525_2018_55_MOESM2_ESM.xls › Sup_File_1

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline
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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."