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Volume 58, Issue 9
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
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Phenotypes
Short report
Biallelic variants in
BRCA1
gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
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