Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A1
Variant:p.T46T
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SLC6A1

NM_003042.4:p.T46T

Associated Papers

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Silva DB et al.

American Journal of Human Genetics, 2024

38781976 (PubMed )
Supplement: mmc2.xlsx › Data

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___
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