Associated Papers
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.
Yi S et al.
Heliyon, 2024
38496842 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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