Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.T99R
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KHDC3L

NM_001017361.3:p.T99R

Associated Papers

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Pignata L et al.

Clinical Epigenetics, 2022

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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."