Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Y1649*
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CHD7

NM_017780.4:p.Y1649*

Associated Papers

Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.

Shoji Y et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2014

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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."