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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIN2

Variant:p.S433delFs

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RIN2

NM_018993.4:p.S433delFs

hg38:chr20:19975322 AG>A

Associated Papers

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

33369135 (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."