Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.E332K
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KCNJ8

NM_004982.4:p.E332K

Associated Papers

Kir6.1 and SUR2B in Cantú syndrome.

McClenaghan C et al.

American Journal of Physiology. Cell Physiology, 2022

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.

Apuril Velgara ES et al.

American Journal of Medical Genetics. Part A, 2022

Kir6.2-D323 and SUR2A-Q1336: an intersubunit interaction pairing for allosteric information transfer in the KATP channel complex.

Brennan S et al.

The Biochemical Journal, 2020

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