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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCCS

Variant:p.G203Splc

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HCCS

NM_005333.5:p.G203Splc

hg38:chrX:11120998 G>A

Associated Papers

Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Reis LM et al.

Genes, 2024

39766903 (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."