Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.
Nazari T et al.
International Journal of Molecular and Cellular Medicine, 2019
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Vogt J et al.
Journal of Medical Genetics, 2012
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