Varaico: Literature-Extracted Genetic Variants

Gene:MAML2
Variant:p.Q603_Q604del2
Back to variants list

MAML2

NM_032427.4:p.Q603_Q604del2

Associated Papers

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.

Webb BD et al.

European Journal of Human Genetics : Ejhg, 2021

33840812 (PubMed )
Supplement: 41431_2021_883_MOESM1_ESM.xlsx › PPM7900HomoHemiRecessive-Geneti

Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.

Yin X et al.

Cancer Research, 2017

28972072 (PubMed )
Supplement: 00085472can171461-sup-183444_3_supp_4263540_vw5qwj.xlsx › S5

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 121.83
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."