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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLCE1

Variant:p.S1185Splc

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PLCE1

NM_016341.4:p.S1185Splc

hg38:chr10:94257484 G>A

Associated Papers

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

Schobers G et al.

European Journal of Human Genetics : Ejhg, 2025

39333430 (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."