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C188671Level 6

SIX1 NM_005982.4:c.530A>G

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A nucleotide substitution at position 530 of the coding sequence of the SIX1 gene where adenine has been mutated to guanine.

**Synonyms:** - BOS3 c.530A>G - DFNA23 c.530A>G - NM_005982.4:c.530A>G - SIX Homeobox 1 c.530A>G - SIX1 c.530A>G - Sine Oculis Homeobox Homolog 1 c.530A>G - TIP39 c.530A>G

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