Concepedia

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene

Mohammad Reza Saberi, Zahra Golchehre, Hamzeh Salmani, Arezou Karamzade, Seyed Ziaeddin Tabatabaie, Mohammad Keramatipour

International Journal of Pediatric Otorhinolaryngology · 2018 · 14 citations · 24 references

DOI

Concepts

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24

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Daniel Quang, Yifei Chen, Xiaohui Xie · Bioinformatics · 2014 · 1.1K citations · Full text

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A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

Latarsha J. Carithers, Kristin Ardlie, Mary E. Barcus et al. · Biopreservation and Biobanking · 2015 · 930 citations · Full text

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Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

Nadège Bondurand · Human Molecular Genetics · 2000 · 458 citations · Full text

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Seminars in Cell & Developmental Biology

Josef Loidl, Alexander Lorenz · 2016 · 260 citations

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