Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.S511Y
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ANOS1

NM_000216.4:p.S511Y

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

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

Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.

Stamou MI et al.

Endocrine Connections, 2019

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27657687 (PubMed )
Supplement: NIHMS807719-supplement-Table_S2_S3.xlsx › Table_S2

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

Stamou MI et al.

European Journal of Endocrinology, 2017

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD et al.

Fertility and Sterility, 2011

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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."