Varaico: Literature-Extracted Genetic Variants

Gene:PKP4
Variant:p.A707V
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PKP4

NM_003628.6:p.A707V

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.

Jabalameli MR et al.

Molecular Genetics & Genomic Medicine, 2021

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf
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