Varaico: Literature-Extracted Genetic Variants

Gene:MYL1
Variant:p.E102Splc
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MYL1

NM_079420.3:p.E102Splc

Associated Papers

Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional Assays.

Xu Y et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Zhang L et al.

Genome Medicine, 2025

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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."