LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
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LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Background The LSM1 gene encodes a subunit of the conserved LSM1-7 protein complex involved in messenger RNA (mRNA) metabolism. Variants in the LSM1 gene have been described in two separate case repor...
