Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.Q72*
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FGFR1

NM_023110.3:p.Q72*

Associated Papers

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Poch A et al.

Molecular and Cellular Endocrinology, 2024

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD et al.

Molecular and Cellular Endocrinology, 2016

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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."