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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MPDZ

Variant:p.R1744Splc

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MPDZ

NM_001378778.1:p.R1744Splc

hg38:chr9:13121738 C>T

Associated Papers

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Rad A et al.

Clinical Genetics, 2024

38857973 (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."