Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease
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DOI: 10.1002/humu.24385
Abstract: An autosomal recessive disease is caused by biallelic loss‐of‐function mutations. However, when more than two disease‐causing variants are found in a patient's gene, it is challenging to determine which two of the variants are responsible… read more here.
Keywords: disease; three truncation; truncation; truncation variants ... See more keywords