Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.D129A
Back to variants list

FGFR1

NM_023110.3:p.D129A

Associated Papers

Genomic characterization of patients with colorectal cancer.

Mahdouani M et al.

Hereditary Cancer in Clinical Practice, 2025

FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.

Orsmond A et al.

Pituitary, 2025

The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.

Gündüz R et al.

Women & Health, 2024

Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia.

John J et al.

Schizophrenia Research, 2019

Fibroblast growth factor receptor signaling in pediatric B-cell precursor acute lymphoblastic leukemia.

Jerchel IS et al.

Scientific Reports, 2019

Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases.

Bonhomme B et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28351340 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0254.pdf

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Phan M et al.

Human Genetics, 2016

Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.

Kim SH et al.

Journal of Neuroendocrinology, 2008

Molecular pathogenesis of Kallmann's syndrome.

Cadman SM et al.

Hormone Research, 2007

Genetic insights into human isolated gonadotropin deficiency.

Trarbach EB et al.

Pituitary, 2007

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Tsai PS et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Albuisson J et al.

Human Mutation, 2005

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

de Roux N

Hormone Research, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."