Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q2237*
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KMT2D

NM_003482.4:p.Q2237*

Associated Papers

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Balbás-Martínez C et al.

Nature Genetics, 2013

24121791 (PubMed )
Supplement: NIHMS525200-supplement-4.xlsx › Rel._mut_preval._screen__60_5_
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