Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.A373D
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SLC37A4

NM_001164277.2:p.A373D

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Molecular biology and gene therapy for glycogen storage disease type Ib.

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.

Ahn HH et al.

Febs Letters, 2015

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

Chen SY et al.

Molecular Genetics and Metabolism, 2008

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

Chen LY et al.

Human Molecular Genetics, 2002

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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."