Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.V257L
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KISS1R

NM_032551.5:p.V257L

Associated Papers

A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.

Alexandraki KI et al.

Endocrine, 2025

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.

Sano S et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

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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."