Varaico: Literature-Extracted Genetic Variants

Gene:ATRNL1
Variant:p.G492_N493delFs
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ATRNL1

NM_207303.4:p.G492_N493delFs

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: mmc2.xlsx › Table_S1a_Case_and_variant_deta
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