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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INTS11

Variant:p.H420Y

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INTS11

NM_001256456.2:p.H420Y

hg38:chr1:1312841 G>A

Associated Papers

INTS11-related neurodevelopmental disorder: a case report and literature review.

Jiang L et al.

Journal of Human Genetics, 2024

39030370 (PubMed )

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Tepe B et al.

American Journal of Human Genetics, 2023

37054711 (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."