Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A4
Variant:p.G83D
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ATP1A4

NM_144699.4:p.G83D

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

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

The genomic landscape of pediatric renal cell carcinomas.

Beck P et al.

Iscience, 2022

35445187 (PubMed )
Supplement: mmc3.xlsx › DKFZ_SNVs_and_indels_pipeline

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 › 1._nonsynonymous_variants

Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa.

Williams HL et al.

Human Reproduction (oxford, England), 2015

26453676 (PubMed )
Supplement: supp_dev243_dev243supp_table2.pdf
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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."