Varaico: Literature-Extracted Genetic Variants

Gene:LRCH4
Variant:p.S76insFs
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LRCH4

NM_002319.5:p.S76insFs

Associated Papers

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

Al-Dosari M et al.

American Journal of Medical Genetics. Part A, 2009

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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."