Varaico: Literature-Extracted Genetic Variants

Gene:PLCL1
Variant:p.D387V
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PLCL1

NM_006226.4:p.D387V

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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