Varaico: Literature-Extracted Genetic Variants

Gene:MBTPS2
Variant:p.I236_L237insFs
Back to variants list

MBTPS2

NM_015884.4:p.I236_L237insFs

Associated Papers

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Cubellis MV et al.

Clinical Epigenetics, 2020

32928291 (PubMed )
Supplement: 13148_2020_925_MOESM6_ESM.xlsx › F2_I-4
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."