Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings
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DOI: 10.1111/cge.14300
Abstract: POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA polymerase III enzymes in transcription. Bi‐allelic variants in POLR3B pathogenically cause hypomyelinating leukodystrophy‐8 (HLD8). Herein, we recruited a family with two… read more here.
Keywords: mutations associated; polr3b biallelic; identification polr3b; biallelic mutations ... See more keywords