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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTRH1

Variant:p.A106Splc

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PTRH1

NM_001002913.3:p.A106Splc

hg38:chr9:127714974 C>G

Associated Papers

A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.

Horev L et al.

Experimental Dermatology, 2005

16274456 (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."