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Monogenic hearing loss v2.166 | STXBP3 | Arina Puzriakova Entity copied from Primary immunodeficiency v2.425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.166 | STXBP3 |
Arina Puzriakova gene: STXBP3 was added gene: STXBP3 was added to Hearing loss. Sources: Expert Review Amber,Expert Review Mode of inheritance for gene: STXBP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STXBP3 were set to 33346580; https://doi.org/10.1053/j.gastro.2017.11.120; 33891011 Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Sensorineural hearing loss Penetrance for gene: STXBP3 were set to unknown |