Varaico: Literature-Extracted Genetic Variants

Gene:SCFD2
Variant:p.G283V
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SCFD2

NM_152540.4:p.G283V

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Urreizti R et al.

Orphanet Journal of Rare Diseases, 2020

32041641 (PubMed )
Supplement: 13023_2020_1317_MOESM1_ESM.pdf
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