Publications:

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A positively selected FBN1 missense variant reduces height in Peruvian individuals.

Nature

Asgari, Samira S; Luo, Yang Y; Akbari, Ali A; Belbin, Gillian M GM; Li, Xinyi X; Harris, Daniel N DN; Selig, Martin M; Bartell, Eric E; Calderon, Roger R; Slowikowski, Kamil K; Contreras, Carmen C; Yataco, Rosa R; Galea, Jerome T JT; Jimenez, Judith J; Coit, Julia M JM; Farroñay, Chandel C; Nazarian, Rosalynn M RM; O'Connor, Timothy D TD; Dietz, Harry C HC; Hirschhorn, Joel N JN; Guio, Heinner H; Lecca, Leonid L; Kenny, Eimear E EE; Freeman, Esther E EE; Murray, Megan B MB; Raychaudhuri, Soumya S

Publication Date: 2020-06

Variant appearance in text: rs150199504

PubMed Link: 32499652

Variant Present in the following documents:

• Main text

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Characterizing rare and low-frequency height-associated variants in the Japanese population.

Nature Communications

Akiyama, Masato M; Ishigaki, Kazuyoshi K; Sakaue, Saori S; Momozawa, Yukihide Y; Horikoshi, Momoko M; Hirata, Makoto M; Matsuda, Koichi K; Ikegawa, Shiro S; Takahashi, Atsushi A; Kanai, Masahiro M; Suzuki, Sadao S; Matsui, Daisuke D; Naito, Mariko M; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Tanno, Kozo K; Sasaki, Makoto M; Hozawa, Atsushi A; Minegishi, Naoko N; Wakai, Kenji K; Tsugane, Shoichiro S; Shimizu, Atsushi A; Yamamoto, Masayuki M; Okada, Yukinori Y; Murakami, Yoshinori Y; Kubo, Michiaki M; Kamatani, Yoichiro Y

Publication Date: 2019-09-27

Variant appearance in text: rs150199504

PubMed Link: 31562340

Variant Present in the following documents:

• Main text
• 41467_2019_Article_12276.pdf

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Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Current Osteoporosis Reports

Muthuirulan, Pushpanathan P; Capellini, Terence D TD

Publication Date: 2019-10

Variant appearance in text: rs150199504

PubMed Link: 31441021

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of rare and low-frequency genetic variants in common disease.

Genome Biology

Bomba, Lorenzo L; Walter, Klaudia K; Soranzo, Nicole N

Publication Date: 2017-04-27

Variant appearance in text: rs150199504

PubMed Link: 28449691

Variant Present in the following documents:

• Main text
• 13059_2017_Article_1212.pdf

View BVdb publication page

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Epigenetic and genetic components of height regulation.

Nature Communications

Benonisdottir, Stefania S; Oddsson, Asmundur A; Helgason, Agnar A; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Oskarsdottir, Arna A; Thorleifsson, Gudmar G; Davidsson, Olafur B OB; Arnadottir, Gudny A GA; Sulem, Gerald G; Jensson, Brynjar O BO; Holm, Hilma H; Alexandersson, Kristjan F KF; Tryggvadottir, Laufey L; Walters, G Bragi GB; Gudjonsson, Sigurjon A SA; Ward, Lucas D LD; Sigurdsson, Jon K JK; Iordache, Paul D PD; Frigge, Michael L ML; Rafnar, Thorunn T; Kong, Augustine A; Masson, Gisli G; Helgason, Hannes H; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2016-11-16

Variant appearance in text: rs150199504

PubMed Link: 27848971

Variant Present in the following documents:

• ncomms13490-s1.pdf

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Height-reducing variants and selection for short stature in Sardinia.

Nature Genetics

Zoledziewska, Magdalena M; Sidore, Carlo C; Chiang, Charleston W K CWK; Sanna, Serena S; Mulas, Antonella A; Steri, Maristella M; Busonero, Fabio F; Marcus, Joseph H JH; Marongiu, Michele M; Maschio, Andrea A; Ortega Del Vecchyo, Diego D; Floris, Matteo M; Meloni, Antonella A; Delitala, Alessandro A; Concas, Maria Pina MP; Murgia, Federico F; Biino, Ginevra G; Vaccargiu, Simona S; Nagaraja, Ramaiah R; Lohmueller, Kirk E KE; , ; Timpson, Nicholas J NJ; Soranzo, Nicole N; Tachmazidou, Ioanna I; Dedoussis, George G; Zeggini, Eleftheria E; , ; Uzzau, Sergio S; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Abecasis, Gonçalo R GR; Novembre, John J; Schlessinger, David D; Cucca, Francesco F

Publication Date: 2015-11

Variant appearance in text: rs150199504

PubMed Link: 26366551

Variant Present in the following documents:

• Main text
• emss-64788.pdf

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