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UnknownCongenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
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S-EPMC9777638 | biostudies-literature
UnknownPrediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.
Not available
S-EPMC4802523 | biostudies-literature
UnknownRADX Gene Variant May Predispose to Familial Asperger Syndrome.
Not available
S-EPMC9957148 | biostudies-literature
UnknownExpanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.
Not available
S-EPMC9778367 | biostudies-literature
UnknownSix Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.
Not available
S-EPMC7674938 | biostudies-literature
UnknownA pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
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S-EPMC10796570 | biostudies-literature
UnknownA Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
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S-EPMC9321261 | biostudies-literature
UnknownDisorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Not available
S-EPMC4195882 | biostudies-literature
UnknownThree intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.
Not available
S-EPMC12522890 | biostudies-literature
UnknownA novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.
Not available
S-EPMC5832971 | biostudies-literature
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