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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
T (brachyury) is linked to a Mendelian form of neural tube defects in humans.