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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC10A7

Variant:p.F157_L158Splc

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SLC10A7

NM_001029998.6:p.F157_L158Splc

hg38:chr4:146306010 C>A

Associated Papers

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia.

Zhao XC et al.

Hgg Advances, 2026

41229113 (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."