Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD7
Variant:p.R617C
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KBTBD7

NM_032138.7:p.R617C

Associated Papers

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.

Bacchelli E et al.

Research Square, 2023

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