Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A6
Variant:p.G6R
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SLC38A6

NM_153811.3:p.G6R

Associated Papers

Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor.

Yuan Z et al.

Signal Transduction and Targeted Therapy, 2025

40931016 (PubMed )
Supplement: 41392_2025_2380_MOESM1_ESM.docx

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
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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."