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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2101
Abstract: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes…
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Keywords:
dystrophy;
limb girdle;
variants linked;
girdle muscular ... See more keywords
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Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.01.002
Abstract: Asthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been identified as a sub-type of male infertility. Recent progress has identified several MMAF-associated genes with an autosomal recessive inheritance in human affected individuals,…
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Keywords:
cfap47 induce;
linked cfap47;
variants linked;
asthenoteratozoospermia ... See more keywords