Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.C163R
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ANOS1

NM_000216.4:p.C163R

Associated Papers

Unsupervised learning reveals landscape of local structural motifs across protein classes.

Derry A et al.

Bioinformatics (oxford, England), 2025

40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf

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

Patil VA et al.

Clinical Endocrinology, 2022

Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.

Nie M et al.

European Journal of Endocrinology, 2017

Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.

Nair S et al.

Clinical Endocrinology, 2016

Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.

Wang F et al.

Scientific Reports, 2015

The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.

Zhang S et al.

Fertility and Sterility, 2013

X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.

Hu Y et al.

Molecular and Cellular Endocrinology, 2011

Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.

Jap TS et al.

Journal of Endocrinological Investigation, 2011

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