Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.M396I
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CHD7

NM_017780.4:p.M396I

Associated Papers

Gene-environment interaction in functional hypothalamic amenorrhea.

Barbagallo F et al.

Frontiers in Endocrinology, 2024

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

Delaney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Eggers S et al.

Genome Biology, 2016

27899157 (PubMed )
Supplement: 13059_2016_1105_MOESM1_ESM.xlsx › Sheet2
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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."