Varaico: Literature-Extracted Genetic Variants

Gene:HPDL
Variant:p.S49R
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HPDL

NM_032756.4:p.S49R

Associated Papers

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

Baggiani M et al.

International Journal of Molecular Sciences, 2024

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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."