Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.T665A
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SMC3

NM_005445.4:p.T665A

Associated Papers

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Ansari M et al.

Hgg Advances, 2024

38297832 (PubMed )
Supplement: mmc5.xlsx › Table_S4c_gnomAD_ms_CADD___25

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Ansari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808847 (PubMed )
Supplement: media-5.xlsx › Table_S4c_gnomAD_ms_CADD___25
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