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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTHLH

Variant:p.Q7_L16delFs

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PTHLH

NM_198965.2:p.Q7_L16delFs

hg38:chr12:27969448 AGCAGGAACACCGCGACGCTCCACTGC>A

Associated Papers

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Hobson GM et al.

Neurology, 2000

11071483 (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."