Varaico: Literature-Extracted Genetic Variants

Gene:LIFR
Variant:p.P248S
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LIFR

NM_001127671.2:p.P248S

Associated Papers

Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort.

Gupta N et al.

Prenatal Diagnosis, 2025

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Foldynova-Trantirkova S et al.

Human Mutation, 2012

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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."