Varaico: Literature-Extracted Genetic Variants

Gene:SACM1L
Variant:p.H183P
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SACM1L

NM_014016.5:p.H183P

Associated Papers

Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.

Galosi S et al.

Parkinsonism & Related Disorders, 2021

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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."