Varaico: Literature-Extracted Genetic Variants

Gene:CNTN2
Variant:p.R359S
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CNTN2

NM_005076.5:p.R359S

Associated Papers

Erratum to a partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Unknown Author

Translational Andrology and Urology, 2022

36507481 (PubMed )
Supplement: tau-11-11-1611-supplementary.pdf

A partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Chen Y et al.

Translational Andrology and Urology, 2021

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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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."