Varaico: Literature-Extracted Genetic Variants

Gene:PROK2
Variant:p.G100fs
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PROK2

NM_001126128.2:p.G100fs

Associated Papers

Trio-based whole exome sequencing in patients with ectopic posterior pituitary.

Lyra A et al.

Frontiers in Pediatrics, 2024

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

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL et al.

European Journal of Endocrinology, 2019

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM4_ESM.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."