Varaico: Literature-Extracted Genetic Variants

Gene:MYO3B
Variant:p.Q623_Q625del0
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MYO3B

NM_138995.5:p.Q623_Q625del0

Associated Papers

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

Fasham J et al.

Brain : a Journal of Neurology, 2023

37459438 (PubMed )
Supplement: awad235_supplementary_data.pdf

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N et al.

Brain : a Journal of Neurology, 2020

32282878 (PubMed )
Supplement: awaa085_supplementary_data.zip › awaa085-suppl_data › brain-2019-01328-File007.pdf
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