Publications:

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Npj Genomic Medicine

Zhao, Sen S; Zhang, Yuanqiang Y; Hallgrimsdottir, Sigrun S; Zuo, Yuzhi Y; Li, Xiaoxin X; Batkovskyte, Dominyka D; Liu, Sen S; Lindelöf, Hillevi H; Wang, Shengru S; Hammarsjö, Anna A; Yang, Yang Y; Ye, Yongyu Y; Wang, Lianlei L; Yan, Zihui Z; Lin, Jiachen J; Yu, Chenxi C; Chen, Zefu Z; Niu, Yuchen Y; Wang, Huizi H; Zhao, Zhi Z; Liu, Pengfei P; Qiu, Guixing G; Posey, Jennifer E JE; Wu, Zhihong Z; Lupski, James R JR; Micule, Ieva I; Anderlid, Britt-Marie BM; Voss, Ulrika U; Sulander, Dennis D; Kuchinskaya, Ekaterina E; Nordgren, Ann A; Nilsson, Ola O; , ; Zhang, Terry Jianguo TJ; Grigelioniene, Giedre G; Wu, Nan N

Publication Date: 2022-02-15

Variant appearance in text: MYH3: 1549G>T; Asp517Tyr

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH3: Asp517Tyr

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH3: D517Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

American Journal Of Medical Genetics. Part A

Beck, Anita E AE; McMillin, Margaret J MJ; Gildersleeve, Heidi I S HI; Kezele, Phillip R PR; Shively, Kathryn M KM; Carey, John C JC; Regnier, Michael M; Bamshad, Michael J MJ

Publication Date: 2013-03

Variant appearance in text: MYH3: 1549G>T; D517Y

PubMed Link: 23401156

Variant Present in the following documents:

• Main text

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Sheldon-Hall syndrome.

Orphanet Journal Of Rare Diseases

Toydemir, Reha M RM; Bamshad, Michael J MJ

Publication Date: 2009-03-23

Variant appearance in text: MYH3: D517Y

PubMed Link: 19309503

Variant Present in the following documents:

• Main text
• 1750-1172-4-11.pdf

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