Varaico: Literature-Extracted Genetic Variants

Gene:SRP68
Variant:p.D120N
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SRP68

NM_014230.4:p.D120N

Associated Papers

Proteostasis regulation of GABAA receptors in neuronal function and disease.

Chen X et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
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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."