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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSCB

Variant:p.Y128C

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HSCB

NM_172002.5:p.Y128C

hg38:chr22:28744664 A>G

Associated Papers

Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.

Moseng MA et al.

The Journal of Physical Chemistry. B, 2019

30933555 (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."