Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE2
Variant:p.Q148E
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ANKLE2

NM_015114.3:p.Q148E

Associated Papers

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Vall-Palomar M et al.

Plos Genetics, 2025

40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
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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."