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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFLNA

Variant:p.L81delFs

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RFLNA

NM_181709.5:p.L81delFs

hg38:chr12:124314355 GC>G

Associated Papers

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Shimizu H et al.

Journal of Human Genetics, 2019

30796325 (PubMed )

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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."