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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPDL

Variant:p.R72_P76del0

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HPDL

NM_032756.4:p.R72_P76del0

hg38:chr1:45327360 CGCGTCACGCCGT>C

Associated Papers

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

Wang Y et al.

Molecular Genetics & Genomic Medicine, 2022

35985664 (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."