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Updated: Dec 21, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
Fatema Al Amrani1, Carolina Gorodetsky1, Lili-Naz Hazrati1
1Division of Neurology (F.A.A., C.G., K.A., H.D.G., J.J.D.), Hospital for Sick Children; Department of Pathology and Laboratory Medicine (L.-N.H.), Hospital for Sick Children; and Department of Pediatrics and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada.
No abstract available in PubMed .
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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