Varaico: Literature-Extracted Genetic Variants

Gene:RNF113A
Variant:p.G212D
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RNF113A

NM_006978.3:p.G212D

Associated Papers

Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.

Rabin R et al.

American Journal of Medical Genetics. Part A, 2026

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30842647 (PubMed )
Supplement: 41436_2019_464_MOESM2_ESM.xlsx › Summary
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