Varaico: Literature-Extracted Genetic Variants

Gene:LINS1
Variant:p.H329_V330delFs
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LINS1

NM_001040616.3:p.H329_V330delFs

Associated Papers

Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.

Li XY et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Neuhofer CM et al.

Neurology. Genetics, 2020

Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.

Sheth J et al.

American Journal of Medical Genetics. Part A, 2017

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Akawi NA et al.

Orphanet Journal of Rare Diseases, 2013

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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."