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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL28

Variant:p.R216_L217delFs

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MRPL28

NM_006428.5:p.R216_L217delFs

hg38:chr16:368341 AGTCT>A

Associated Papers

Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.

Mine J et al.

Developmental Medicine and Child Neurology, 2015

25356525 (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."