Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.H303H
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NSMF

NM_001130969.3:p.H303H

Associated Papers

Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Kałużna M et al.

Endocrine Connections, 2025

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 › Existing_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."