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UnknownAssemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species.
Not available
S-EPMC3844414 | biostudies-literature
UnknownImmunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Not available
S-EPMC11223960 | biostudies-literature
UnknownELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Not available
S-EPMC12260708 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownReanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Not available
S-EPMC11934095 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownDe novo variants in DENND5B cause a neurodevelopmental disorder.
Not available
S-EPMC10940048 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | biostudies-literature
UnknownHNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Not available
S-EPMC10432175 | biostudies-literature
UnknownLarge-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Not available
S-EPMC11116816 | biostudies-literature
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