Publications:

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes

Ullah, Muhammad Ikram MI

Publication Date: 2022-06-16

Variant appearance in text: TYR: 223G>T

PubMed Link: 35741834

Variant Present in the following documents:

• genes-13-01072.pdf

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports

Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,

Publication Date: 2017-03-07

Variant appearance in text: TYR: 223G>T

PubMed Link: 28266639

Variant Present in the following documents:

• Main text
• srep44185-s1.pdf
• srep44185.pdf

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Molecular dynamics studies on troponin (TnI-TnT-TnC) complexes: insight into the regulation of muscle contraction.

Journal Of Biomolecular Structure & Dynamics

Varughese, Jayson F JF; Chalovich, Joseph M JM; Li, Yumin Y

Publication Date: 2010-10

Variant appearance in text: TYR: D75Y

PubMed Link: 20645650

Variant Present in the following documents:

• Main text

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