- Tytuł:
- A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.
- Autorzy:
- Temat:
-
MISSENSE mutation
SPINAL muscular atrophy
ZINC-finger proteins
HEARING disorders
CEREBRAL atrophy
FRAGILE X syndrome
RECESSIVE genes - Źródło:
- Case Reports in Genetics; 1/2/2024, p1-5, 5p
Czasopismo naukowe