Varaico: Literature-Extracted Genetic Variants

Gene:LHB
Variant:p.R88W
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LHB

NM_000894.3:p.R88W

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2

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

Male hypogonadism caused by a homozygous missense mutation of the LHB gene.

Chen J et al.

The Korean Journal of Internal Medicine, 2021

Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.

Izumi Y et al.

Fertility and Sterility, 2014

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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."