Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S331_S332insFs
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TSC1

NM_000368.5:p.S331_S332insFs

Associated Papers

The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.

Xia Y et al.

F&s Reports, 2024

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.

Lincoln SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34007000 (PubMed )
Supplement: 41436_2021_1187_MOESM2_ESM.xlsx › Table_S5
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