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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF1

Variant:p.R208_R210del3

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SRSF1

NM_006924.5:p.R208_R210del3

hg38:chr17:58005522 TACGGCTTCG>T

Associated Papers

Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.

Jin X et al.

Human Mutation, 2022

34747549 (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."