Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.E51_L52Splc
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HYCC1

NM_032581.4:p.E51_L52Splc

Associated Papers

Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

Bibi A et al.

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

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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."