DANIEL CALAME to Microcephaly
This is a "connection" page, showing publications DANIEL CALAME has written about Microcephaly.
Connection Strength
0.752
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
Score: 0.596
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
Score: 0.156