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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease



A Heterozygous Splice‐Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals


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10.1016/j.amsu.2019.10.030

Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report



A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease



An exceptional response to immunotherapy doublet in combined hepatocellular carcinoma-cholangiocarcinoma



Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.


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10.1097/MD.0000000000013850

X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus


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10.1080/13816810.2019.1698617

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness



A Heterozygous Splice‐Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals



Mucin 21 is a key molecule involved in the incohesive growth pattern in lung adenocarcinoma


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10.1016/j.euroneuro.2017.08.219

SU30: RARE VARIANTS WITHIN LOCI HARBORING COMMON VARIANTS ASSOCIATED WITH BIPOLAR DISORDER AND SCHIZOPHRENIA: FURTHER ELUCIDATING THE GENETIC ARCHITECTURE OF SEVERE PSYCHIATRIC ILLNESS


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10.1016/j.ejmg.2018.09.004

Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.



Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain.



A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation


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