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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAB1A

Variant:p.R175*

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RAB1A

NM_004161.5:p.R175*

hg38:chr2:65088588 G>A

Associated Papers

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

Torene RI et al.

American Journal of Human Genetics, 2024

38091987 (PubMed )

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

Rios JJ et al.

American Journal of Human Genetics, 2023

37924809 (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."