Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A3
Variant:p.R258W
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ATP2A3

NM_005173.4:p.R258W

Associated Papers

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

McCormack SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

28453858 (PubMed )
Supplement: jc.2017-00332.st1.xls › Sheet1

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf
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