Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.S169L
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PTHLH

NM_198965.2:p.S169L

Associated Papers

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N et al.

Breast Cancer Research : Bcr, 2018

29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.

Lu Y et al.

Human Genome Variation, 2017

28101371 (PubMed )
Supplement: hgv201644-s1.doc

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

Hodes ME et al.

American Journal of Medical 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."