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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP3D1

Variant:p.R667_R668Splc

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AP3D1

NM_001261826.3:p.R667_R668Splc

hg38:chr19:2116281 G>A

Associated Papers

A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.

Nawaz S et al.

Journal of Human Genetics, 2021

33517345 (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."