Varaico: Literature-Extracted Genetic Variants

Gene:PTPRQ
Variant:p.S267delFs
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PTPRQ

NM_001145026.2:p.S267delFs

Associated Papers

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
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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."