Varaico: Literature-Extracted Genetic Variants

Gene:LIFR
Variant:p.E219fs
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LIFR

NM_001127671.2:p.E219fs

Associated Papers

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Siccha SM et al.

American Journal of Medical Genetics. Part A, 2021

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Romeo Bertola D et al.

Molecular Syndromology, 2016

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Hatagami Marques J et al.

Molecular Syndromology, 2015

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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."