Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.L257L
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FGFR1

NM_023110.3:p.L257L

Associated Papers

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Francou B et al.

Plos One, 2011

22031817 (PubMed )
Supplement: pone.0025614.s005.doc

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

Bhagavath B et al.

Molecular Human Reproduction, 2007

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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."