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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLURP1

Variant:p.F92_C93del1

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SLURP1

NM_020427.3:p.F92_C93del1

hg38:chr8:142741177 CAGA>C

Associated Papers

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar A et al.

Bmc Medical Genetics, 2019

31443639 (PubMed )

Supplement: 12881_2019_872_MOESM1_ESM.docx

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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."