Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.T163N
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SMARCAL1

NM_014140.4:p.T163N

Associated Papers

De novo variants in immune regulatory genes in Down syndrome regression disorder.

Jafarpour S et al.

Journal of Neurology, 2024

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Jafarpour S et al.

Journal of Neurology, 2022

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 2016

27069622 (PubMed )
Supplement: 13630_2016_29_MOESM1_ESM.xls › Total_variants
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