Varaico: Literature-Extracted Genetic Variants

Gene:TBPL1
Variant:p.P162S
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TBPL1

NM_004865.4:p.P162S

Associated Papers

Mre 11 p nuclease activity is dispensable for telomeric rapid deletion.

Williams B et al.

Dna Repair, 2005

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Matthijs G et al.

American Journal of Human Genetics, 1998

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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."