Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.L141P
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GNRHR

NM_000406.3:p.L141P

Associated Papers

Divergent folding-mediated epistasis among unstable membrane protein variants.

Chamness LM et al.

Elife, 2024

39078397 (PubMed )
Supplement: elife-92406-supp4.xlsx › Intersection_high_quality_n_251

Divergent Folding-Mediated Epistasis Among Unstable Membrane Protein Variants.

Chamness LM et al.

Biorxiv : the Preprint Server for Biology, 2024

37662415 (PubMed )
Supplement: media-1.pdf

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Kałużna M et al.

Frontiers in Endocrinology, 2024

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Kałużna M et al.

Genes, 2021

34198905 (PubMed )
Supplement: genes-12-00868-s001.zip › genes-1238540-supplementary.xlsx › New_variants
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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."