Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A6
Variant:p.E131_Y132Splc
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SLC5A6

NM_021095.4:p.E131_Y132Splc

Associated Papers

SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.

Pi BK et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Riley LG et al.

European Journal of Human Genetics : Ejhg, 2024

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Dawes R et al.

Nature Genetics, 2023

36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA
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