Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L79delFs
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PTCH1

NM_000264.5:p.L79delFs

Associated Papers

Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.

Zhang Y et al.

Acta Oto-laryngologica, 2010

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."