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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCLT1

Variant:p.K431_I432Splc

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SCLT1

NM_144643.4:p.K431_I432Splc

hg38:chr4:128946154 T>C

Associated Papers

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Weisschuh N et al.

Journal of Medical Genetics, 2024

37734845 (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."