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UnknownFamilies of restriction enzymes: an analysis prompted by molecular and genetic data for type ID restriction and modification systems.
Not available
S-EPMC60208 | biostudies-literature
UnknownA homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Not available
S-EPMC6001798 | biostudies-literature
UnknownThe SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Not available
S-EPMC4297897 | biostudies-literature
UnknownThe impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Not available
S-EPMC11179413 | biostudies-literature
UnknownBiallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Not available
S-EPMC10620944 | biostudies-literature
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