Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.W786*
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MUSK

NM_005592.4:p.W786*

Associated Papers

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Bourgon N et al.

European Journal of Human Genetics : Ejhg, 2022

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Lefebvre M et al.

Journal of Medical Genetics, 2021

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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."