Varaico: Literature-Extracted Genetic Variants

Gene:LHX3
Variant:p.R310P
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LHX3

NM_178138.6:p.R310P

Associated Papers

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

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

Jullien N et al.

European Journal of Human Genetics : Ejhg, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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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."