Varaico: Literature-Extracted Genetic Variants

Gene:LSM1
Variant:p.I77_D78Splc
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LSM1

NM_014462.3:p.I77_D78Splc

Associated Papers

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Reytan Miron S et al.

Journal of Medical Genetics, 2025

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."