Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.P428A
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CHD7

NM_017780.4:p.P428A

Associated Papers

Phenotypic spectrum of CHARGE syndrome based on clinical characteristics

Aksel Kılıçarslan Ö et al.

Turkish Journal of Medical Sciences, 2018

Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Bozkaya OG et al.

Balkan Journal of Medical Genetics : Bjmg, 2015

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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."