Varaico: Literature-Extracted Genetic Variants

Gene:LIFR
Variant:p.A622V
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LIFR

NM_001127671.2:p.A622V

Associated Papers

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

Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.

Bonthuis D et al.

Paediatric Anaesthesia, 2009

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

Morava E et al.

American Journal of Medical Genetics. Part A, 2006

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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."