Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome

Babylakshmi Muthusamy, Thong T. Nguyen, Aravind K. Bandari, Salah Basheer, Lakshmi Dhevi N. Selvan, Deepshikha Chandel, Jesna Manoj, Srimonta Gayen, Somasekar Seshagiri, Satish Chandra Girimaji, Akhilesh Pandey

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Medicine & Life Sciences