Publications:

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.

Clinics (Sao Paulo, Brazil)

Montenegro, Luciana R LR; Lerário, Antônio M AM; Nishi, Miriam Y MY; Jorge, Alexander A L AAL; Mendonca, Berenice B BB

Publication Date: 2021

Variant appearance in text: HSD17B3: Val31Leu

PubMed Link: 33503178

Variant Present in the following documents:

• Main text
• cln-76-2052.pdf

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Relation between sex hormones and leucocyte telomere length in men with idiopathic pulmonary fibrosis.

Respirology (Carlton, Vic.)

Fang, Chuling C; Huang, Hui H; Zhang, Qian Q; Wang, Na N; Jing, Xiaoyan X; Guo, Jian J; Ferianc, Martin M; Xu, Zuojun Z

Publication Date: 2020-12

Variant appearance in text: rs2066480

PubMed Link: 32583532

Variant Present in the following documents:

• Main text
• RESP-25-1265.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2066480

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Plos One

Wang, Hsin-Shih HS; Wu, Hsien-Ming HM; Cheng, Bi-Hwa BH; Yen, Chih-Feng CF; Chang, Pi-Yueh PY; Chao, Angel A; Lee, Yun-Shien YS; Huang, Hsien-Da HD; Wang, Tzu-Hao TH

Publication Date: 2012

Variant appearance in text: rs2066480

PubMed Link: 23139742

Variant Present in the following documents:

• Main text
• pone.0047374.pdf

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