Varaico: Literature-Extracted Genetic Variants

Gene:SCARF2
Variant:p.W148fs
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SCARF2

NM_182895.5:p.W148fs

Associated Papers

Exploring scavenger receptor class F member 2 and the importance of scavenger receptor family in prediagnostic diseases.

Vo TT et al.

Toxicological Research, 2023

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Hildebrandt CC et al.

American Journal of Medical Genetics. Part A, 2021

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Migliavacca MP et al.

American Journal of Medical Genetics. Part A, 2014

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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."