Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.E1122Q
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PHKA1

NM_002637.4:p.E1122Q

Associated Papers

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf
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