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UnknownA comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
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S-EPMC4947104 | biostudies-literature
UnknownWorldwide Survey of COVID-19-Associated Arrhythmias.
Not available
S-EPMC7982128 | biostudies-literature
UnknownDefining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Not available
S-EPMC7862064 | biostudies-literature
UnknownEvent-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
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S-EPMC11095900 | biostudies-literature
UnknownHomologous recombination DNA repair defects in PALB2-associated breast cancers.
Not available
S-EPMC6687719 | biostudies-literature
UnknownGermline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Not available
S-EPMC7675002 | biostudies-literature
UnknownDeleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Not available
S-EPMC5563332 | biostudies-literature
UnknownPhenotypic Divergence of JAG1‐ and NOTCH2‐Associated Alagille Syndrome & Disease‐Specific NOTCH2 Variant Classification Guidelines
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S-EPMC12312628 | biostudies-literature
UnknownGenotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Not available
S-EPMC9852554 | biostudies-literature
UnknownFactors associated with adverse COVID-19 outcomes in patients with psoriasis-insights from a global registry-based study.
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S-EPMC7566694 | biostudies-literature
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