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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMPCB

Variant:p.D443_A444Splc

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PMPCB

NM_004279.3:p.D443_A444Splc

hg38:chr7:103312054 A>T

Associated Papers

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.

Matthews E et al.

Journal of Human Genetics, 2024

38374165 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."