Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: MYOC: 767C>T; Thr256Met

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease Models & Mechanisms

Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL

Publication Date: 2022-12-29

Variant appearance in text: MYOC: T256M

PubMed Link: 36579626

Variant Present in the following documents:

• Main text
• dmm-16-049816-s1.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MYOC: T256M

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Orphanet Journal Of Rare Diseases

Urreizti, Roser R; Lopez-Martin, Estrella E; Martinez-Monseny, Antonio A; Pujadas, Montse M; Castilla-Vallmanya, Laura L; Pérez-Jurado, Luis Alberto LA; Serrano, Mercedes M; Natera-de Benito, Daniel D; Martínez-Delgado, Beatriz B; Posada-de-la-Paz, Manuel M; Alonso, Javier J; Marin-Reina, Purificación P; O'Callaghan, Mar M; Grinberg, Daniel D; Bermejo-Sánchez, Eva E; Balcells, Susanna S

Publication Date: 2020-02-10

Variant appearance in text: MYOC: 767C>T; Thr256Met; rs200072086

PubMed Link: 32041641

Variant Present in the following documents:

• 13023_2020_1317_MOESM1_ESM.pdf

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Comprehensive analysis of myocilin variants in east Indian POAG patients.

Molecular Vision

Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K

Publication Date: 2012

Variant appearance in text: MYOC: 767C>T; Thr256Met

PubMed Link: 22736945

Variant Present in the following documents:

• Main text
• mv-v18-1548.pdf

View BVdb publication page