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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HEXB

Variant:p.P43L

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HEXB

NM_001292004.2:p.P43L

hg38:chr5:74713537 C>T

Associated Papers

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.

Ahn H et al.

Brain & Development, 2020

32113700 (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."