Varaico: Literature-Extracted Genetic Variants

Gene:PRMT7
Variant:p.Y670delFs
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PRMT7

NM_019023.5:p.Y670delFs

Associated Papers

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Cali E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

36399134 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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