Varaico: Literature-Extracted Genetic Variants

Gene:FAM120C
Variant:p.P111fs
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FAM120C

NM_017848.6:p.P111fs

Associated Papers

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29309402 (PubMed )
Supplement: gim2017155x6.pdf
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