Varaico: Literature-Extracted Genetic Variants

Gene:GALM
Variant:p.N190Y
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GALM

NM_138801.3:p.N190Y

Associated Papers

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations.

Liu X et al.

Molecular Biology and Evolution, 2023

37903429 (PubMed )
Supplement: msad231_supplementary_data.zip › MBE-23-0248.R2.STables.xlsx › ST3

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Type IV galactosemia.

Timson DJ

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

Iwasawa S et al.

Molecular Genetics and Metabolism, 2019

Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.

Yamada Y et al.

International Journal of Molecular Medicine, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."