Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis
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DOI: 10.3389/fneur.2022.893605
Abstract: Background Benefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance… read more here.
Keywords: lama2 variants; diagnosis; muscular dystrophy; two novel ... See more keywords