PUBMED ID | 30546343 |
DOI | 10.3389/fneur.2018.01027 |
TITLE | Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD |
1 combination linked to 622 | OLI051 |
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PUBMED ID | 30546343 |
DOI | 10.3389/fneur.2018.01027 |
TITLE | Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD |
1 combination linked to 622 | OLI051 |