Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.D1638E
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CHD7

NM_017780.4:p.D1638E

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Acierno JS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.

Xu C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Cassatella D et al.

European Journal of Endocrinology, 2018

29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
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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."