Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.R178H
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AMT

NM_001164710.2:p.R178H

Associated Papers

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Mustafa AE et al.

Genes, 2018

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

26179960 (PubMed )
Supplement: ANA-78-606-s001.pdf
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