Varaico: Literature-Extracted Genetic Variants

Gene:CA2
Variant:p.S29P
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CA2

NM_000067.3:p.S29P

Associated Papers

Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2020

Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.

Pang Q et al.

Metabolic Brain Disease, 2015

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Vivante A et al.

Nephron. Physiology, 2011

Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.

Shmukler BE et al.

American Journal of Hematology, 2010

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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."