Varaico: Literature-Extracted Genetic Variants

Gene:AGAP3
Variant:p.A27fs
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AGAP3

NM_031946.7:p.A27fs

Associated Papers

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Alkhater RA et al.

Annals of Clinical and Translational Neurology, 2018

30564627 (PubMed )
Supplement: ACN3-5-1617-s002.xlsx › SNVs

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_nevus_1
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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."