Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K2247T
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AHNAK

NM_001620.3:p.K2247T

Associated Papers

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

Liu Q et al.

Bmc Medical Genetics, 2018

29587644 (PubMed )
Supplement: 12881_2018_564_MOESM1_ESM.xlsx › __1

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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