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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MT1B

Variant:p.K43M

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MT1B

NM_005947.3:p.K43M

hg38:chr16:56653007 A>T

Associated Papers

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.

Wang L et al.

Oncotarget, 2017

29221207 (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."