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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAMLD1

Variant:p.Q639_G640Splc

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MAMLD1

NM_005491.5:p.Q639_G640Splc

hg38:chrX:150473679 G>A

Associated Papers

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Peng D et al.

Bmc Medical Genomics, 2021

34920737 (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."