Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A10
Variant:p.Q954_F955Splc
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SLC4A10

NM_001178015.2:p.Q954_F955Splc

Associated Papers

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Fasham J et al.

Brain : a Journal of Neurology, 2023

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
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