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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROS1

Variant:p.D176delFs

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PROS1

NM_000313.4:p.D176delFs

hg38:chr3:93905858 TC>T

Associated Papers

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N et al.

American Journal of Human Genetics, 2000

10947946 (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."