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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MZT2B

Variant:p.A50T

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MZT2B

NM_025029.5:p.A50T

hg38:chr2:130182430 G>A

Associated Papers

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Hamdan N et al.

Clinical Genetics, 2020

32578875 (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."