KBTBD4 Small In-Frame Insertion Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** An in-frame nucleotide insertion affecting six codons or less in the KBTBD4 gene.

**Synonyms:** - BKLHD4 Small In-Frame Insertion Mutation - KBTBD4 Hotspot In-Frame Insertion Mutation - Kelch Repeat and BTB Domain Containing 4 Small In-Frame Insertion Mutation